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1. Traitement par ARN interférent : exemple de l’hyperoxalurie primitive

Author: Justine Bacchetta, Anne-Laure Sellier-Leclerc, Pierre Cochat, and Aurélia Bertholet-Thomas
Subjects: medicine.medical_specialty, Kidney, business.industry, medicine.medical_treatment, Renal function, Disease, Liver transplantation, medicine.disease, Gastroenterology, Transplantation, Primary hyperoxaluria, medicine.anatomical_structure, Nephrology, Internal medicine, medicine, Nephrocalcinosis, business, Rare disease
Abstract: Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. As glomerular filtration decreases, a systemic overload appears and spares no organ. Treatment has hitherto been based on combined liver and kidney transplantation, with significant mortality and morbidity. The recent introduction of interfering RNA treatments opens up new perspectives. By blocking an enzymatic synthesis (glycolate oxidase or lacticodehydrogenase a) upstream of the deficit that causes the disease, oxaluria normalizes and the tolerance of the drug (administered by injection every 1 to 3 months) is good. This strategy will help prevent kidney failure in patients treated early and avoid liver transplantation in those who are diagnosed at an advanced stage of kidney failure.
Published: 2021
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2. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

Author: Aurélia Bertholet-Thomas, Giovambattista Capasso, Martin Konrad, Detlef Bockenhauer, Lorenzo A. Calò, Francesco Trepiccione, Mandeep Singh, Gema Ariceta, Kirsty Whitton, Karl P. Schlingmann, Rosa Vargas-Poussou, Francesco Emma, Stephen B. Walsh, Tom Nijenhuis, Konrad, M., Nijenhuis, T., Ariceta, G., Bertholet-Thomas, A., Calo, L. A., Capasso, G., Emma, F., Schlingmann, K. P., Singh, M., Trepiccione, F., Walsh, S. B., Whitton, K., Vargas-Poussou, R., Bockenhauer, D., Institut Català de la Salut, [Konrad M] Department of General Pediatrics, University Hospital Münster, Münster, Germany. [Nijenhuis T] Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Bertholet-Thomas A] Université Claude Bernard Lyon 1, Lyon, France. [Calo LA] Department of Medicine (DIMED), Nephrology, Dialysis, Transplantation, University of Padova, Padua, Italy. [Capasso G] Division of Nephrology, Department of Translational Medical Sciences, School of Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy, and Vall d'Hebron Barcelona Hospital Campus
Subjects: 0301 basic medicine, 030232 urology & nephrology, Disease, Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome [DISEASES], hypokalemic metabolic alkalosi, Bioinformatics, Bartter syndrome, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Renal tubular dysfunction, Ronyons - Malalties - Diagnòstic, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], salt-losing tubulopathy, inherited hypokalemia, Secondary hyperaldosteronism, business.industry, Mechanism (biology), Otros calificadores::Otros calificadores::/genética [Otros calificadores], medicine.disease, 030104 developmental biology, Blood pressure, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Assistència sanitària - Control de qualitat, administración de los servicios de salud::calidad de la atención sanitaria::indicadores de calidad en la asistencia sanitaria [ATENCIÓN DE SALUD], Nephrology, Health Services Administration::Quality of Health Care::Quality Indicators, Health Care [HEALTH CARE], Malalties rares, Diagnosis::Diagnostic Techniques and Procedures [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], enfermedades del sistema endocrino::enfermedades de las glándulas suprarrenales::hiperfunción corticosuprarrenal::hiperaldosteronismo::síndrome de Bartter [ENFERMEDADES], business, diagnóstico::técnicas y procedimientos diagnósticos [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Kidney disease, Rare disease
Abstract: Síndrome de Bartter; Hipokalièmia heretada; Tubulopatia perdedora de sal Síndrome de Bartter; Hipopotasemia hereditaria; Tubulopatía perdedora de sal Bartter syndrome; Inherited hypokalemia; Salt-losing tubulopathy Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defective salt reabsorption predominantly in the thick ascending limb of the loop of Henle. There is significant variability in the clinical expression of the disease, which is genetically heterogenous with 5 different genes described to date. Despite considerable phenotypic overlap, correlations of specific clinical characteristics with the underlying molecular defects have been demonstrated, generating gene-specific phenotypes. As with many other rare disease conditions, there is a paucity of clinical studies that could guide diagnosis and therapeutic interventions. In this expert consensus document, the authors have summarized the currently available knowledge and propose clinical indicators to assess and improve quality of care.
Published: 2021

3. Rare diseases of phosphate and calcium metabolism: Crossing glances between nephrology and endocrinology

Author: Aurélia Bertholet-Thomas, Mélodie Mosca, Julie Bernardor, Sandrine Lemoine, Justine Bacchetta, Centre de référence des maladies rénales rares Néphrogones [CHU-HCL, Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital l'Archet, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Lyon, and CarMeN, laboratoire
Subjects: Nephrology, X-linked hypophosphatemia, medicine.medical_specialty, Hypoparathyroidism, Hypoparathyroïdie, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Phosphate, 030209 endocrinology & metabolism, Context (language use), Nephrolithiasis, Kidney, urologic and male genital diseases, Hypophosphatémie liée à l’X, Phosphates, Lithiase, 03 medical and health sciences, Hyperphosphatemia, Rare Diseases, 0302 clinical medicine, Endocrinology, Calcium Metabolism Disorders, Internal medicine, medicine, Teriparatide, Humans, Hypercalciuria, Patient Care Team, Calcium metabolism, business.industry, Hyperparathyroidism, Phosphorus Metabolism Disorders, General Medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Hyperparathyroïdie, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Phosphore, Rein, Calcium, Interdisciplinary Communication, business, medicine.drug
Abstract: International audience; Rare diseases of phosphate/calcium metabolism correspond to a wide and heterogeneous spectrum of diseases. Recent knowledge in physiology and genetics has made it possible to better characterize them and to propose attractive therapeutic approaches based on the underlying pathophysiology. These diseases are often at the interface between nephrology and endocrinology. In this spirit of a multidisciplinary care, each specialty can bring its own critical point of view and its own specificities to improve patient care. The objective of this manuscript is to "read" with a nephrologist's point of view the main frameworks of diseases of phosphate/calcium metabolism, to illustrate the three crucial messages of nephro-protection sent to endocrinologists. First, calciuria must be interpreted both in absolute value (concentration hypercalciuria) and in ratio (flow hypercalciuria). Second, renal monitoring of therapies inducing hypercalciuria on kidneys with normal renal function (e.g. active vitamin D analogs or teriparatide) should be systematic. Last, hyperphosphatemia, often latent in hypoparathyroidism and pseudo-hypoparathyroidism, should be detected and at least benefit from dietary measures, in the context of Western diets rich in phosphate hidden in food additives.
Published: 2021
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4. Cystinuria: clinical practice recommendation

Author: Servais, Aude, Thomas, Kay, Dello Strologo, Luca, Sayer, John A, Bekri, Soumeya, Bertholet-Thomas, Aurelia, Bultitude, Matthew, Capolongo, Giovanna, Cerkauskiene, Rimante, Daudon, Michel, Doizi, Steeve, Gillion, Valentine, Gràcia-Garcia, Silvia, Halbritter, Jan, Heidet, Laurence, van den Heijkant, Marleen, Lemoine, Sandrine, Knebelmann, Bertrand, Emma, Francesco, Levtchenko, Elena, Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Guy's and St Thomas NHS Foundation Trust [London], Children's Hospital Bambino Gesù IRCCS [Rome], University of the Study of Campania Luigi Vanvitelli, Vilnius University [Vilnius], Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cliniques Universitaires Saint-Luc [Bruxelles], Fundación Puigvert [Barcelona, Spain], University of Leipzig [Leipzig, Allemagne], University Medical Center [Utrecht], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Lyon, Department of Development and Regeneration, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, CarMeN, laboratoire, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Leipzig University, Servais, Aude, Thomas, Kay, Dello Strologo, Luca, A Sayer, John, Bekri, Soumeya, Bertholet-Thomas, Aurelia, Bultitude, Matthew, Capolongo, Giovanna, Cerkauskiene, Rimante, Daudon, Michel, Doizi, Steeve, Gillion, Valentine, Gràcia-Garcia, Silvia, Halbritter, Jan, Heidet, Laurence, van den Heijkant, Marleen, Lemoine, Sandrine, Knebelmann, Bertrand, Emma, Francesco, and Levtchenko, Elena
Subjects: Adult, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Consensus, Urinary system, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, MEDLINE, potassium citrate, tiopronin, Disease, Kidney, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, Quality of life, cystinuria, medicine, Humans, d-penicillamine, urolithiasis, Child, cystine, Cystinuria, business.industry, D-penicillamine, Evidence-based medicine, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, Systematic review, Nephrology, Quality of Life, Cystine, tiopronin and urolithiasis, business
Abstract: Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment. ispartof: KIDNEY INTERNATIONAL vol:99 issue:1 pages:48-58 ispartof: location:United States status: published
Published: 2021
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5. Treatment and long-term outcome in primary distal renal tubular acidosis

Author: Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane, Gil-Pena, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, Koenig, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J, Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J, Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan, Mohebbi, Nilufar, Çukurova Üniversitesi, Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stéphane, Gil-Peña, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yüksel, Selçuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, König, Jen, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wühl, Elke, Ağbaş, Ayşe, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pınarbaşı, Ayşe Seda, Melek, Engin, Miglinas, Mariu, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, and Internal Medicine
Subjects: Male, glomerulus filtration rate, ATP6V1B1 protein, human, DNA Mutational Analysis, kidney calcification, distal renal tubular acidosis, Sensorineural, nephrocalcinosi, ATP6V1B1 gene, Renal tubular acidosis, 0302 clinical medicine, newborn, Chronic kidney disease, middle aged, Medicine, genetics, Young adult, Child, adult, cohort analysis, perception deafness, Sensorineural hearing loss, aged, Nephrocalcinosis, priority journal, Nephrology, Child, Preschool, Cohort, Acidosis, mutational analysis, Vacuolar Proton-Translocating ATPases, medicine.medical_specialty, Hearing Loss, Sensorineural, rare disease, Renal function, bicarbonate, complication, Article, 03 medical and health sciences, nephrocalcinosis, Humans, human, gross national product, Hearing Loss, Aged, Infant, economic aspect, Distal renal tubular acidosis, medicine.disease, major clinical study, proton transporting adenosine triphosphate synthase, Mutation, nephrolithiasis, estimated glomerular filtration rate, chronic kidney disease, SLC4A1 gene, 030232 urology & nephrology, Deafness, 030204 cardiovascular system & hematology, preschool child, sensorineural hearing loss, nephrolithiasi, Cohort Studies, distal renal tubular acidosi, Interquartile range, kidney tubule acidosis, gene mutation, kidney function, Acidosis, Renal Tubular, chronic kidney failure, Middle Aged, urine, female, genetic association study, medical care, body height, young adult, Female, Renal Tubular, Glomerular Filtration Rate, onset age, Adult, Adolescent, prevalence, Nephrolithiasis, Young Adult, Rare Diseases, primary distal renal tubular acidosis, blood, Internal medicine, follow up, gene, Preschool, outcome assessment, Genetic Association Studies, Transplantation, calcium, business.industry, Infant, Newborn, hearing impairment, Newborn, Bicarbonates, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Calcium, metabolic regulation, business, Kidney disease
Abstract: PubMedID: 30773598 Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. Methods. We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Results. Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (61.16). There was an increased prevalence of chronic kidney disease (CKD) Stage -2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. Conclusion. Long-Term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients. © The Author(s) 2018. Erciyes Üniversitesi Iran University of Medical Sciences Università degli Studi di Padova Chung Hua University American Ornithologists' Union University of Queensland 7Centre University College London Aristotle University of Thessaloniki Lunds Universitet Cairo University National Rosacea Society Heart of England NHS Foundation Trust Centre hospitalier universitaire Sainte-Justine Erasmus Universiteit Rotterdam Aristotle University of Thessaloniki 1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK, 2Centre for Nephrology, University College London, London, UK, 3Division of Nephrology, Bambino Gesù Children’s Hospital—IRCCS, Rome, Italy, 4Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France, 5Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran, 6Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland, 7Centre de référence Maladies rénales rares, Bron, France, 8ASST Niguarda, Milan, Italy, 9Department of Pediatrics, University Hospital of Cologne, Cologne, Germany, 10University Hospital Leuven, Leuven, Belgium, 11King Edward Memorial Hospital, Pune, India, 12Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt, 13Hospital Universitario Vall d’Hebron, Barcelona, Spain, 14Division of Pediatric Nephrology, NRS Medical College, Kolkata, India, 15Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy, 16University Children’s Hospital, Medical School, Skopje, Macedonia, 17National Medical and Research Centre for Children’s Health, Moscow, Russia, 18Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France, 19Hospital Universitario Central de Asturias, Oviedo, Spain, 20Radboud University Medical Centre, Nijmegen, The Netherlands, 21Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola-Malpighi, Bologna, Italy, 22Charité Universitätsmedizin Berlin, Berlin, Germany, 23University Children’s Hospital, Münster, Germany, 24Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands, 25Centro Hospitalar de Lisboa Central, Lisbon, Portugal, 26Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece, 27Lady Cilento Children’s Hospital, Brisbane, Australia, 28School of Medicine, the University of Queensland, Brisbane, Australia, 29Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey, 30Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy, 31Karolinska Institutet, Lund University,Sweden,GroupFlorenceNightingaleHospitals,Ist32· anbul, Turkey,Fondazione Policlinico A. Gemelli, Universita` Cattolica del33 Sacro Cuore, Rome, Italy, 34Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia, 35Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore Policlinico, Milan, Italy, 36Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy, 37Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark, 38Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany, 39Haseki Education and Research Hospital, Istanbul, Turkey, 40Belarusian State Medical University, Minsk, Belarus, 41Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France, 42Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy, 43Necker Hospital, Paris, France, 44Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey, 45Cukurova University, Adana, Turkey, 46Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania, 47University Hospital of Lille, France, 48Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 49University Hospital Centre Zagreb, Zagreb, Croatia, 50Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland, 51Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany, The European dRTA Consortium consists of the authors, as well as: Amira Peco-Antic(Department of Nephrology, University Children’s Hospital, Belgrade, Serbia), Amrit Kaur (Department of Paediatric Nephrology, Royal Manchester Children’s Hospital, Manchester, UK), Antonino Paglialunga (ASP de Ragusa, Modica, Italy), Aude Servais (Department of Nephrology, Centre Hospitalier Universitaire Necker, APHP, Paris, France), Branko Lutovac (Clinical Centre of Montenegro, Institute for Children’s Disease, Podgorica, Montenegro), Ewout J. Hoorn (Erasmus Medical Center, Rotterdam, The Netherlands), Hadas Shasha-Lavsky (Galilee Medical Center, Nahariya, Israel), Jerome Harambat (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Astrid Godron-Dubrasquet (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Kathrin Buder (Pediatric Department, University Hospital, Carl Gustav Carus Dresden, Dresden, Germany), Lise Allard (Department of Pediatrics, Angers University Hospital, Angers, France), Ludwig Patzer (Children’s Hospital St Elisabeth and St Barbara, Halle, Germany), Marina Shumikhina (Filatov Children’s Clinical Hospital No. 13, Moscow, Russia), Matthias Hansen (KfH Centre of Paediatric Nephrology, Clementine Children’s Hospital, Frankfurt, Germany), Nikoleta Printza (First Pediatric Department, Aristotle University, Thessaloniki, Greece), Nuran Küc¸ük (Kartal Dr. Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey), Ortraud Beringer (University Children’s Hospital, Ulm, Germany), Rajendra Bhimma (Inkosi Albert Luthuli, Central Hospital, Durban, South Africa), Rimante Cerkauskiene (Faculty of Medicine, Children’s Hospital, Vilnius University, Vilnius, Lithuania; Santaros Klinikos, Vilnius University Hospital, Vilnius, Lithuania), Thomas J. Neuhaus (Children’s Hospital of Lucerne, Cantonal Hospital of Lucerne, Lucerne, Switzerland), Valbona Stavileci (Pediatric Clinic, Prishtina, Kosovo), Tim Ulinski (Pediatric Nephrology Department, Armand Trousseau University Hospital, APHP, Paris, France), Nida Temizkan Dincel (Health Sciences University, Izmir Dr Behcet Uz Children’s Hospital, İzmir, Turkey) and Nilufar Mohebbi (Division of Nephrology, University Hospital Zurich, Zurich, Switzerland)
Published: 2019
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6. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

Author: Marcella Greco, Detlef Bockenhauer, Jun Oh, Corinne Antignac, Elena Levtchenko, Fatih Ozaltin, Katharina Hohenfellner, Rezan Topaloglu, Gema Ariceta, Aude Servais, Aurélia Bertholet-Thomas, Suzanne Collin, Robert Novo, Olivier Devuyst, Lucilla Ravà, Francesco Emma, Sally A. Hulton, Mirian C. H. Janssen, Koenraad Veys, Lars Pape, Elisabeth A.M. Cornelissen, Chiara Bettini, William van’t Hoff, Patrick Niaudet, Dieter Haffner, Georges Deschênes, and University of Zurich
Subjects: Nephrology, Adult, medicine.medical_specialty, Cysteamine, Cystinosis, Medizin, Cystine, Physiology, 610 Medicine & health, 10052 Institute of Physiology, Cohort Studies, chemistry.chemical_compound, All institutes and research themes of the Radboud University Medical Center, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Cystine Depleting Agents, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Fanconi Syndrome, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Cystinosin, Child, Preschool, 570 Life sciences, biology, business, Cohort study, Kidney disease
Abstract: Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNS gene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970s to the 1990s, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNS gene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.
Published: 2021
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7. Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience

Author: Julie Bernardor, Sacha Flammier, Sara Cabet, Sandrine Lemoine, Roland Chapurlat, Arnaud Molin, Aurélia Bertholet-Thomas, Justine Bacchetta, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hôpital Edouard Herriot [CHU - HCL], Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Université de Lyon, and HUE, Erika
Subjects: medicine.medical_specialty, Urology, Renal function, chemistry.chemical_element, 030209 endocrinology & metabolism, Calcium, Single Center, Pediatrics, RJ1-570, 03 medical and health sciences, chemistry.chemical_compound, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, children, nephrocalcinosis, Teriparatide, medicine, Original Research, 030304 developmental biology, phosphate, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, teriparatide, 0303 health sciences, Creatinine, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, hypoparathyroidism, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, Urinary calcium, 3. Good health, chemistry, Hypoparathyroidism, Pediatrics, Perinatology and Child Health, Nephrocalcinosis, business, medicine.drug
Abstract: Introduction: The use of teriparatide has been reported in children with hypoparathyroidism as an investigational physiologic replacement therapy.Methods: We aimed to retrospectively report our pediatric experience of bi-daily sub-cutaneous teriparatide. Results are presented as median (25th−75th quartile). As part of the routine follow-up of these patients with hypoparathyroidism, total calcium at H0 (i.e., just before injection) and H4 (i.e., 4 h after teriparatide injection) and other biomarker parameters were regularly assessed.Results: At a median age of 10.7 (8.1–12.6) years, an estimated glomerular filtration rate (eGFR) of 110 (95–118) mL/min/1.73 m2, calcium levels of 1.87 (1.81–1.96) mmol/L and an age-standardized phosphate of 3.8 (2.5–4.9) SDS, teriparatide therapy was introduced in 10 patients at the dose of 1.1 (0.7–1.5) μg/kg/day (20 μg twice daily), with further adjustment depending on calcium levels. Six patients already displayed nephrocalcinosis. Severe side effects were reported in one child: two episodes of symptomatic hypocalcemia and one of iatrogenic hypercalcemia; one teenager displayed dysgueusia. Calcium levels at H0 did not significantly increase whilst calcium at H4 and phosphate levels significantly increased and decreased, respectively. After 12 months, eGFR, calcium and age-standardized phosphate levels were 108 (90–122) mL/min/1.73 m2, 2.36 (2.23–2.48) mmol/L, 0.5 (−0.1 to 1.5), and 68 (63–74) nmol/L, respectively, with a significant decrease in phosphate levels (p = 0.01). Urinary calcium and calcium/creatinine ratio remained stable; no nephrolithiasis was observed but two moderate nephrocalcinosis appeared.Conclusion: Intermittent teriparatide therapy significantly improves calcium and phosphate control, without increasing calciuria. It appears to be safe and well-tolerated in children.
Published: 2021
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8. Composition of Urinary Stones in Children: Clinical and Metabolic Determinants in a French Tertiary Care Center

Author: Laurence Dubourg, Christelle Machon, Aurélia Bertholet-Thomas, Camille Rauturier, Justine Bacchetta, and D. Demède
Subjects: medicine.medical_specialty, Urinary system, Calcium oxalate, engineering.material, Gastroenterology, Tertiary Care Centers, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Urolithiasis, 030225 pediatrics, Internal medicine, Epidemiology, medicine, Humans, Hypercalciuria, 030212 general & internal medicine, Child, Retrospective Studies, Kidney, business.industry, Whewellite, medicine.disease, medicine.anatomical_structure, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, engineering, Cystine, Uric acid, Urinary Calculi, business, Weddellite
Abstract: The aim was to describe the composition of stones of pediatric patients, to illustrate current epidemiological trends in pediatric urolithiasis.Clinical and metabolic data from all pediatric patients with at least one stone that was analyzed by Fourier Transformed Infrared Spectroscopy (FTIR) in the Hospices Civils de Lyon s Civils de Lyon between 2013 and 2017 were retrospectively collected. A total of 111 patients (sex ratio 1.4:1) were included; their median [IQR] age was 7.5 [3.1-10.5] years. The main component of stones was calcium oxalate [weddellite for 34 (31%) stones, whewellite 23 (21%)], calcium phosphate [carbapatite 32 (29%), brushite 6 (5%), amorphous calcium phosphate 3 (3%)], struvite 5 (5%), cystine 4 (4%), uric acid 2 (2%), and ammonium acid urate 2 (2%). A total of 20 (18%) stones were pure and 24 (22%) were infectious. Carbapatite stones were the most frequent in patients < 2 years and calcium oxalate stones in patients > 2 years old. Metabolic abnormalities (most frequently hypercalciuria) were found in 50% of tested patients and in 54% of patients with infectious stones. Congenital anomalies of the kidney and/or urinary tract (CAKUT) or neurogenic bladder was present in 9/24 (38%) patients with infectious stones and 12/16 (76%) patients with bladder stones. Conclusion: This study confirms that calcium oxalate stones are the most frequent among pediatric patients, which could reflect the nutritional habits of predisposed patients. In contrast, infectious stones are less frequent and occur mostly in association with anatomic or metabolic favoring factors.
Published: 2021
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9. Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis

Author: Olivia Gillion-Boyer, Sophie Joukoff, François Nobili, Massimo Di Maio, Mathilde Cailliez, Aurélia Bertholet-Thomas, Catherine Guittet, Véronique Baudouin, Robert Novo, Maria A. Manso-Silván, Jérôme Harambat, Victor Navas-Serrano, Gwenaëlle Roussey-Kesler, Ludmila Podracka, Bertrand Knebelmann, Luc-André Granier, Emilija Golubovic, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hôpital Robert Debré, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Pellegrin, and CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin
Subjects: Nephrology, Adult, medicine.medical_specialty, Potassium Compounds, 030232 urology & nephrology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Potassium bicarbonate, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Patient satisfaction, Acceptability, Distal renal tubular acidosis, Internal medicine, Potassium Citrate, Medicine, Humans, 030212 general & internal medicine, Adverse effect, Child, business.industry, dRTA, Acidosis, Renal Tubular, Adherence to treatment, medicine.disease, 3. Good health, Discontinuation, Bicarbonates, Tolerability, chemistry, Pediatrics, Perinatology and Child Health, Cohort, Plasma bicarbonate, Potassium, Quality of Life, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Original Article, Safety, business
Abstract: Background A new prolonged-release formulation of potassium citrate and potassium bicarbonate, ADV7103, has been shown to improve metabolic control, palatability, and gastrointestinal safety in patients with distal renal tubular acidosis (dRTA) when compared to standard of care (SoC) treatments. The present work evaluates safety and efficacy of ADV7103 during 24 months. Methods Thirty pediatric and adult patients were included in an open-label extension study after a phase II/III trial. Safety and tolerability were assessed. Plasma bicarbonate and potassium levels, as well as urine parameters, were evaluated over time. Acceptability, adherence, and quality of life were also assessed. The evolution of clinical consequences of dRTA in the cohort was explored. Results There were 104 adverse events (AEs) reported, but only 9 gastrointestinal events observed in five patients (17%) were considered to be related to ADV7103 treatment. There were no AEs leading to treatment discontinuation. Plasma bicarbonate and potassium levels were in the normal ranges at the different visits, respectively, in 69–86% and 83–93% of patients. Overall adherence rates were ≥ 75% throughout the whole study in 79% patients. An average improvement of quality of life of 89% was reported at 24 months of study. Conclusions Common AEs concerned metabolism and gastrointestinal disorders; the former being related to the disease. Less than half of the gastrointestinal AEs were related to ADV7103 treatment and they were mostly mild in severity. Metabolic parameters were maintained in the normal ranges in most patients. Patient satisfaction was high and adherence to treatment was good and remained stable. Trial registration number Registered as EudraCT 2013-003828-36 on the 3rd of September 2013. Graphical Abstract
Published: 2021
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10. Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

Author: Sophie Vasseur, Julien Hogan, Irma Machuca-Gayet, Olivia Boyer, Aurélia Bertholet-Thomas, Ségolène Gaillard, Isabelle Vrillon, Aude Servais, Sandrine Lemoine, Olivier Peyruchaud, Candide A. Alioli, Justine Bacchetta, Thomas Quinaux, Cécile Acquaviva, Machuca-Gayet, Irma, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Maladies Rénales Rares, Hospices Civil de Lyon, Centre de Référence des Maladies Rares du Calcium et du Phosphore (HFME - HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Hospices Civils de Lyon (HCL), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital Robert Debré, Hôpital Edouard Herriot [CHU - HCL], Université de Lyon, Centre d'Investigation Clinique [Bron] (CIC1407), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupement Hospitalier Est [Bron], and Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA)
Subjects: Male, genotype, 030232 urology & nephrology, Osteoclasts, bone, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, chemistry.chemical_compound, 0302 clinical medicine, Genotype, cysteamine, Medicine, Biology (General), Child, 0303 health sciences, Kidney, Cell Differentiation, General Medicine, Middle Aged, 3. Good health, cystinosis, medicine.anatomical_structure, Phenotype, Cystinosin, Child, Preschool, [SDV.SP.PHARMA] Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Cystinosis, osteoclast, Female, Adult, medicine.medical_specialty, Adolescent, QH301-705.5, Peripheral blood mononuclear cell, Article, 03 medical and health sciences, Osteoclast, Nephropathic Cystinosis, Internal medicine, Humans, Genetic Association Studies, 030304 developmental biology, business.industry, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Endocrinology, Amino Acid Transport Systems, Neutral, chemistry, Mutation, Leukocytes, Mononuclear, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Cysteamine, business
Abstract: International audience; Bone complications of cystinosis have been recently described. The main objectives of this paper were to determine in vitro the impact of CTNS mutations and cysteamine therapy on human osteoclasts and to carry out a genotype-phenotype analysis related to osteoclastic differentiation. Human osteoclasts were differentiated from peripheral blood mononuclear cells (PBMCs) and were treated with increasing doses of cysteamine (0, 50, 200 µM) and then assessed for osteoclastic differentiation. Results are presented as median (min-max). A total of 17 patients (mainly pediatric) were included, at a median age of 14 (2–61) years, and a eGFR of 64 (23–149) mL/min/1.73 m2. Most patients (71%) were under conservative kidney management (CKM). The others were kidney transplant recipients. Three functional groups were distinguished for CTNS mutations: cystinosin variant with residual cystin efflux activity (RA, residual activity), inactive cystinosin variant (IP, inactive protein), and absent protein (AP). PBMCs from patients with residual cystinosin activity generate significantly less osteoclasts than those obtained from patients of the other groups. In all groups, cysteamine exerts an inhibitory effect on osteoclastic differentiation at high doses. This study highlights a link between genotype and osteoclastic differentiation, as well as a significant impact of cysteamine therapy on this process in humans.
Published: 2021
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11. Long-term outcomes of peritoneal dialysis started in infants below 6 months of age: An experience from two tertiary centres

Author: Angélique Dachy, D. Demède, Aurélia Bertholet-Thomas, Bruno Ranchin, Anne-Laure Sellier-Leclerc, Pierre Cochat, François Nobili, Justine Bacchetta, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon, Service de néphrologie pédiatrique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CCSD, Accord Elsevier, and Hospices Civils de Lyon (HCL)
Subjects: Male, Pediatrics, medicine.medical_specialty, Nephrotic Syndrome, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Neurodevelopment, Peritoneal dialysis, 030232 urology & nephrology, Growth, Kidney, Renal Veins, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Renal replacement therapy, Long-term outcomes, Renal Insufficiency, Chronic, Congenital nephrotic syndrome, Dialysis, Retrospective Studies, Venous Thrombosis, Hyperoxaluria, business.industry, Infant, Newborn, Infant, medicine.disease, Kidney Transplantation, 3. Good health, Discontinuation, Transplantation, [SDV] Life Sciences [q-bio], Neurodevelopmental Disorders, Nephrology, Female, Hemodialysis, business, Infants, Follow-Up Studies, Kidney disease
Abstract: Background Little data are available for infants who started renal replacement therapy before 6 months of age. Because of extra-renal comorbidities and uncertain outcomes, whether renal replacement therapy in neonates is justified remains debatable. Methods We performed a retrospective analysis of all patients who began chronic peritoneal dialysis below 6 months between 2007 and 2017 in two tertiary centres. Results are presented as median (min;max). Results Seventeen patients (10 boys) were included (8 prenatal diagnoses, 6 premies), with the following diagnoses: congenital anomalies of kidney and urinary tract (n = 9), oxalosis (n = 5), congenital nephrotic syndrome (n = 2) and renal vein thrombosis (n = 1). Five patients had associated comorbidities. At peritoneal dialysis initiation, age was 2.6 (0.1;5.9) months, height-standard deviation score (SDS) −1.3 (−5.7;1.6) and weight-SDS −1.4 (−3.6;0.6). Peritoneal dialysis duration was 12 (2;32) months, and at peritoneal dialysis discontinuation height-SDS was −1.0 (−4.3;0.7) weight-SDS −0.7 (−3.2;0.2), parathyroid hormone 123 (44;1540) ng/L, and hemoglobin 110 (73;174) g/L. During the first 6 months of peritoneal dialysis, the median time of hospitalisation stay was 69 (15;182) days. Ten patients presented a total of 27 peritonitis episodes. Reasons for peritoneal dialysis discontinuation were switch to hemodialysis (n = 6), transplantation (n = 6), recovery of renal function (n = 2) and death (n = 1). After a follow-up of 4.3 (1.7;10.3) years, 12 patients were transplanted, 2 patients were still on peritoneal dialysis, 2 patients were dialysis free with severe chronic kidney disease and 1 patient had died. Seven patients displayed neurodevelopmental delay, of whom five needed special schooling. Conclusion We confirm that most infants starting peritoneal dialysis before 6 months of age will be successfully transplanted and will have a favourable growth outcome. Their quality of life will be impacted by recurrent hospitalisations and neurodevelopmental delay is frequent.
Published: 2020
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12. Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients

Author: Cécile Couchoud, Florian Bayer, Carole Ayav, Clémence Béchade, Philippe Brunet, François Chantrel, Luc Frimat, Roula Galland, Maryvonne Hourmant, Emmanuelle Laurain, Thierry Lobbedez, Lucile Mercadal, Olivier Moranne, Abdelhamid Abbassi, Alain Debure, Abdallah Guerraoui, Abdelatif Benmoussa, Abdelaziz Hamani, Abdelaziz Ziane, Abdelhamid Nefti, Abdelkader Hadj, Abderrahim El Amari, Abderrahmane Ghazali, Abo Bakr Abd El Fatah Mohamed, Achour Laradi, Adel Ben Ahmed, Adel Sahar, Adele Pillet, Adeline Lacraz, Adnan Moinat, Afshin Massoumi, Agathe Pardon, Agnes Caillette Beaudoin, Agnes Chapelet Debout, Agnes Mariot, Ahmed Rachi, Aida Afiani, Aime Remy Boula, Al Jalaby, Alain Cremault, Alain Fournier, Alain Jeanson, Alain Lyon, Alain Nony, Alain Robert, Alain Slingeneyer, Alanor Agnes Labatide, Albane Brodin Sartorius, Albert Bensman, Albert Fournier, Alex Ranlin, Alex Vido Sandor, Alexandra Colombo, Alexandra Duhem, Alexandra Stancu, Alexandre Dufay, Alexandre Dumoulin, Alexandre Ebel, Alexandre Klein, Alexandre Martin, Alexandre Mouneimne, Alexandre Seidowsky, Alfio De Martin, Alfredo Zannier, Ali Aizel, Ali Hafi, Ali Zineddine Diddaoui, Alim Heyani, Alina Mocanu, Alina Preda, Aline Hafi, Aline Talaszka, Alyette Duquesne, Amar Amaouche, Amel Ghemmour, Amelie Simon, Amina Skalli, Amine Boukadida, Amr Ekhlas Ragab Eid, Ana Fedorca, Anabelle Baillet, Anais Poyet, Ancuta Bouffandeau Giorgita, Anderson Ratsimbazafy, Andre Pruna, Angel Argiles, Angelo Testa, Ann Karolien Vandooren, Anne Jolivot, Anne Kolko Labadens, Anne Lataste, Anne Maisin, Anne Paris, Anne Sechet, Anne Wuillai, Anne Elisabeth Heng, Anne Gaelle Josse, Anne Helene Querard, Anne Helene Reboux, Anne Laure Adra, Anne Laure Faller, Anne Laure Leclerc, Anne Laure Poitou, Annie Lahoche Manucci, Antoine Jacquet, Antoine Pommereau, Antoine Thierry, Arezki Adem, Arielle Chapelet, Arnaud Del Bello, Arnaud Delezire, Arnaud Garnier, Arnaud Guerard, Arnaud Klisnick, Arnaud Lionet, Arnaud Roccabianca, Arnaud Stolz, Arthur Capdeville, Asma Allal, Assem Alrifai, Assetou Diarrassouba, Assia Djema, Assia Ferhat Carre, Astrid Godron Dubrasquet, Atman Haddj Elmrabet, Audrey Jegado, Aurelia Bertholet Thomas, Aurelie Davourie Salandre, Aurelie Pajot, Aurelien Lorthioir, Aurelien Tiple, Aurore Sury, Ayman Abokasem, Ayman Sarraj, Bachir Henaoui, Baher Chaghouri, Bassem Wehbe, Beatrice Ball, Beatrice Viron, Belkassem Issad, Benedicte Hodemon Corne, Benedicte Janbon, Benjamin Deroure, Benjamin Savenkoff, Benoit Jonon, Benoit Vendrely, Benyakoub Djelaleddine, Bernard Ohry, Bernard Painchart, Bernard Strullu, Bernard Temperville, Bertin Ebikili, Bertrand Hacq, Bertrand Morel, Bilal Aoun, Blanca Muniz, Bouchra Chlih, Brahim Amara, Brice Mayor, Brigitte Gilson, Brigitte Llanas, Brigitte Zins, Bruno Bourgeon, Bruno Coevoet, Bruno Guery, Bruno Legallicier, Bruno Paris, Bruno Ranchin, Bruno Seigneuric, Camelia Ghiciuc Dita, Camelia Prelipcean, Carine Achard Hottelart, Carine Diet, Carlos Frangie, Carlos Vela, Carmina Muresan, Carole Deprele, Caroline Araujo, Caroline Bidault, Caroline Creput, Caroline Delclaux, Caroline Du Halgouet, Caroline Favennec, Caroline Freguin, Caroline Gourraud Vercel, Caroline Mesguen, Caroline Ndomo Obama, Caroline Poitou, Caroline Preissig Dirhold, Caroline Roubiou, Catherine Albert, Catherine Bessin, Catherine De Marion Gaja, Catherine Godart, Catherine Lasseur, Catherine Leocardi, Catherine Lumbroso, Catherine Melander, Catherine Michel, Catherine Quere Maurouard, Catherine Rouannet, Catherine Taddei, Cathy Verove, Cecile Guiraud, Cecile Tafelin, Cecile Turc Baron, Cedric Formet, Cedric Pinier, Celia Lessore De Ste Foy, Celine Granolleras, Chaouki Bennini, Charles Cartou, Charles Chazot, Charlotte Jouzel, Cherif Badid, Christa Roubicek, Christel Viaud, Christelle Verrier, Christian Chuet, Christian Combe, Christian Dabot, Christian Duvic, Christian Emond, Christian Lagarde, Christian Lamotte, Christian Pain, Christiane Mousson, Christie Lorriaux, Christine Beauchamp, Christine Fumeron, Christine Le Gurun, Christine Leroy, Christine Pietrement, Christine Richer, Christophe Bouaka, Christophe Charasse, Christophe Goupy, Christophe Ridel, Cindy Castrale, Cindy Detourne, Clair Francois, Claire Presne, Claire Trivin, Clarissa Von Kotze, Claude Bernard, Claude Bonniol, Claude Desvergnes, Claude Raharivelina, Claudia Nistor, Claudine Gueret, Claudine Lloret, Claudine Saltiel, Clelia Rosati, Clementine Rabate, Corina Stanescu, Corinne Ferrandini, Corinne Guibergia, Corinne Lemoine, Corinne Passeron, Cynthia Kahil, Cyril Garrouste, Cyril Vo Van, Cyrille Jolimoy, Dalila Kesraoui, Damien Jolly, Damien Thibaudin, Dan Teboulle, Daniel Daubresse, Daniel Louvet, Daniel Rasamimanantsoa, Daniel Toledano, Daniela Babici, Daniela David, Daniela Dincu, Danielle Bruno, Delia May, Delphine Haussaire, Delphine Henriet Viprey, Denis Bugnon, Denis Fouque, Denis Morin, Derradji Nour, Diab Mohamed Mahmoud, Diana Istrati Cristescu, Didier Aguilera, Didier Coste, Didier Hamel, Didier Le Chapois, Didier Testou, Dilaver Erbilgin, Djamal Dahmane, Doan Bui Quang, Dominique Bertrand, Dominique Besnier, Dominique Blanchier, Dominique Briffa, Dominique Caux, Dominique Durand, Dominique Fleury, Dominique Guerrot, Dominique Hestin, Dominique Jaubert, Dominique Joly, Dominique Lombart, Dominique Pagniez, Dominique Pierre, Dominique Schohn, Donatien Ikonga, Dorina Visanica, Dorothee Bazin, Edouard Boury, Edouard Maksour, Ekoue Agbonon, Elarbi Harrami, Elena Marcu, Elena Tudorache, Elisabeth Caniot, Elisabeth Semjen, Elisabeth Tomkiewicz, Elise Scheidt, Elke Gaboriau, Elodie Lamouroux, Elsa Guiard, Elsa Martin Passos, Emerson Nsembani, Emilie Fache, Emilie Kalbacher, Emilie Pambrun, Emilie Pincon, Emma Allain Launay, Emmanuel Baron, Emmanuel Dupuis, Emmanuel Villar, Emmanuelle Charlin, Emmanuelle Hecquet, Emmanuelle Kohler, Emmanuelle Rosier, Enrique Figueroa, Eric Azoulay, Eric Canivet, Eric Daugas, Eric Gauthier, Eric Laruelle, Eric Le Guen, Eric Legrand, Eric Moumas, Eric Postec, Eric Prinz, Eric Renaudineau, Estelle Desport, Estelle Ricard Sutra, Etienne Berard, Etienne Ged, Etienne Robin, Eve Vilaine, Evelyne Bargas, Evelyne Mac Namara, François Combarnous, Fatima Yazbeck, Fabien Gerard, Fabien Metivier, Fabien Parazols, Fabien Soulis, Fabrice Garnier, Fadhila Pech Messaoudene, Fadi Haidar, Fanny Boullenger, Fanny Lepeytre, Fanny Leroy, Fares Frejate, Farid Bellahsene, Farid Bellhasene, Farid Saidani, Fatouma Toure, Faycal Kriaa, Fazia Nemmar, Fernando Vetromile, Florence Chalmin, Florence Lucats, Florence Sens, Florence Villemain, Florent Plasse, Fouad Lebhour, Francis Schillinger, Franck Berge, Franck Bourdon, Franck Bridoux, Franck Reynaud, Francois Babinet, Francois Basse, Francois Chantrel, Francois Clair, Francois Coulomb, Francois De Cornelissen, Francois Glowacki, Francois Marchal, Francois Maurice, Francois Nobili, Francois Pourreau, Francois Provot, Francois Roux Amani, Francoise Broux, Francoise Bulte, Francoise Heibel, Francoise Leonetti, Francoise Moussion Schott, Frank Le Roy, Frederic Besson, Frederic Lavainne, Frederic Tollis, Frederique Bocquentin, Frederique Meeus, Frederique Vecina, Friederike Von Ey, Gabriel Balit, Gabriel Choukroun, Gabriel Gruget, Gabriel Huchard, Gabriella Golea, Gabrielle Duneau, Gaelle Lefrancois, Gaelle Pelle, Gaetan Lebrun, Genevieve Dumont, Georges Brillet, Georges Deschenes, Georges Mourad, Georges Stamatakis, Geraldine Cazajous, Geraldine D'ythurbide, Geraldine Robitaille Wiart, Gerard Cardon, Gerard Champion, Gerard Deschodt, Gerard Mangenot, Gerard Motte, Gerard Schortgen, Ghada Boulahia, Ghassan Maakaroun, Ghylene Bourdat Michel, Gilbert Zanetta, Gilles Hufnagel, Gilles Messier, Giorgina Piccoli, Gregoire Couvrat Desvergnes, Guillaume Bobrie, Guillaume Bonnard, Guillaume Clement, Guillaume Jean, Guillaume Queffeulou, Guillaume Seret, Guillaume Vernin, Guy Delavaud, Guy Lambrey, Guy Rostoker, Gwenaelle Poussard, Gwenaelle Roussey Kesler, H. Leon, Habib Aboubekr, Hacene Boulechfar, Hacene Sekhri, Hadia Hebibi, Hadjira Benalia, Hafed Fessi, Hafsabhai Atchia, Haiat Bittar, Hakim Maiza, Hakim Mazouz, Hamid El Ali, Hammouche Bougrida, Hans Van Der Pijl, Hassan Lokmane, Hassane Izzedine, Hassen Adda, Helene De Preneuf, Helene Leray, Helene Philippot, Henri Boulanger, Henri Merault, Henri Renaud, Herve Bonarek, Herve Maheut, Hilaire Nzeyimana, Hocine Mehama, Hocine Zaidi, Hugo Weclawiak, Hugues Flodrops, Huseyin Karaaslan, Ibrahim Haskour, Ihssen Belhadj, Imad Almoubarak, Imad Haddad, Ines Castellano, Ines Ferrandiz, Ioana Daniliuc, Ioana Darie, Ioana Enache, Ionut Prunescu, Irenee Djiconkpode, Irina Shahapuni, Isabelle Bouchoule, Isabelle Devriendt, Isabelle Kazes, Isabelle Kolb, Isabelle Landru, Isabelle Poli, Isabelle Rey, Isabelle Segalen, Isabelle Selcer, Isabelle Vernier, Isabelle Vrillon, Ismahane Guenifi, J. Dominique Gheerbrandt, Jacky Potier, Jacques Becart, Jacques Cledes, Jacques Ducros, Jacques Duvic, Jacques Fourcade, Jacques Gaultier, Jacques Jurine, Jacques Lebleu, Jacques Ollier, Jacques Ibsen Charles, Jamal Yazji, Janette Mansour, Jean Arnautou, Jean Brocard, Jean Carolfi, Jean Montoriol, Jean Baptiste Gouin, Jean Bernard Palcoux, Jean Christophe Bendini, Jean Claude Aldigier, Jean Claude Alphonse, Jean Daniel Delbet, Jean Francois Bonne, Jean Francois Cantin, Jean Francois De Fremont, Jean Francois Dessassis, Jean Francois Subra, Jean Francois Valentin, Jean Francois Verdier, Jean Jacques Dion, Jean Jacques Haultier, Jean Jacques Montseny, Jean Louis Bacri, Jean Louis Bouchet, Jean Luc Mahe, Jean Marc Chalopin, Jean Marc Gabriel, Jean Marc Hurot, Jean Marc Lanau, Jean Marie Batho, Jean Marie Coulibaly, Jean Michel Hardin, Jean Michel Marc, Jean Michel Poux, Jean Michel Rebibou, Jean Michel Tivollier, Jean Noel Ottavioli, Jean Paul Faucon, Jean Paul Imiela, Jean Paul Jaulin, Jean Paul Masselot, Jean Paul Ortiz, Jean Philippe Bourdenx, Jean Philippe Devaux, Jean Philippe Hammelin, Jean Pierre Rivory, Jean Pierre Wauquier, Jean Rene Larue, Jean Rene Mondain, Jean Sebastien Borde, Jean Simon Virot, Jean Yves Bosc, Jedjiga Achiche, Jennifer Parasote, Jeremie Diolez, Jerome Harambat, Jerome Potier, Jerome Sampol, Jihad Mustel, Jean Jacques Lefevre, Jocelyne Maurizi, Joel Gamberoni, Joelle Claudeon, Joelle Terzic, Joffrey Rogol, Johnny Sayegh, Jorge Cardozo, Jose Brasseur, Jose Guiserix, Joseph Barsumau, Julie Albaret, Julie Beaume, Julie Sohier Attias, Julien Dehay, Julien Hogan, Julien Journet, Julien Ott, Juliette Baleynaud, Justine Bacchetta, Justine Faucher, Kamel Yousfi, Karim Dardim, Karine Clabault, Karine Moreau, Kedna Thomas, Khaled Sirajedine, Khalil Chedid, Khalil El Kaeoui, Khalil El Karoui, Khedidja Bouachi, Kheira Hue, Khuzama El Nasser, Kodso Akposso, Kristian Kunz, Krzysztof Bijak, Lilia Kihal, L. Rasoloarijaona, Laid Harbouche, Larbi Bencheikh, Larbie Lamriben, Latifa Hanafi, Laura Braun Parvez, Laure Champion, Laure Croze, Laure Eprinchard, Laure Patrier, Laurence Nicolet, Laurence Vrigneaud, Laurent Duflot, Leandre Mackaya, Leila Chenine, Leon Odry, Lili Taghipour Tamiji, Lilia Antri Bouzar, Liliane Ngango Nga Messi, Lionel Le Mouellic, Lise Mandart, Lise Weis, Lise Marie Pouteau, Lora Georgieva, Lorita Vitanova, Lotfi Chalabi, Luc Delvallez, Luc Fromentin, Luc Marty, Luc Monjot, Luciana Spataru, Lucie Bessenay, Lucie Boissinot, Lucie Wajsbrot, Lucien Rakoff, Ludivine Lebourg, Lydie Perez, Lyliane Lafage, Lynda Azzouz, Madeleine Dumoulin, Messaoud Ouziala, Maan Joseph, Mabrouk Brahimi, Maeva Wong Fat, Magalie Fort, Magued Nakhla, Mahdi Abtahi, Mahen Albadawy, Mahmoud Alouach, Mahmoud Mezghani, Maite Daroux, Maklouf Boukelmoune, Malek Dhib, Malik Touam, Malina Dubau, Mamadou Balde, Man Nguyen Khoa, Manfred Ismer, Manolie Mehdi, Manon Laforet, Marc Bouiller, Marc Eugene, Marc Fila, Marc Hazzan, Marc Kribs, Marc Ladriere, Marc Lebot, Marc Padilla, Marc Souid, Marcel Marraoui, Maren Burbach, Maria Manescu, Maria Eugenia Noguera Gonzalez, Mariana Revenco, Marianne Terrasse, Marie Essi, Marie Alice Macher, Marie Beatrice Nogier, Marie Cecile Cazin, Marie Christine Schweitzer Camoin, Marie Christine Thouret, Marie Claude Hannaert, Marie France Servel, Marie Helene Chabannier, Marie Jeanne Coudert Krier, Marie Noelle Catoliquot, Marie Paule Guillodo, Marie Sophie Gavard, Marie Xaviere Vairon Codaccioni, Marina Rabec, Marine Freist, Marion Gauthier, Marion Lemaire, Marion Mehrenberger, Marion Venot, Marios Pongas, Marlene Beaubrun Diant, Martial Levannier, Martine Bertaux, Mathieu Jablonski, Mathieu Sacquepee, Mathilde Dargelos, Mathilde Lemoine, Mathilde Tamain, Matthieu Monge, Matthieu Reberolle, Maud Cousin, Maud Francois, Maurice Baron, Maxime Hoffmann, Maxime Ingwiller, Maxime Touzot, Mederick Mohajer, Mehadji Maaz, Melanie Hanoy, Melanie Marroc, Melodie Cuny, Menno Van Der Straaten, Mf. Serveaux, Michel Basteri, Michel Fen Chong, Michel Hecht, Michel Massad, Michel Normand, Michel Olmer, Michel Tolani, Michel Tsimaratos, Michele Hemery, Michele Kessler, Miguel Esposito, Milad Shenouda, Mimi Kareche, Mina Khalili, Mirella Diaconita, Mohamad Khair Rifard, Mohamed Aladib, Mohamed Belmouaz, Mohamed Brahim, Mohamed Diouani, Mohamed Fodil Cherif, Mohamed Jamali, Mohamed Maghlaoua, Mohamed Meddeb, Mohamed Ramdane, Mohamed Rifaat, Mohamed Sharifull Islam, Mohamed Adnan Abbade, Mokhtar Amrandi, Mokhtar Chawki, Monica Ciobotaru, Monica Indrieis, Monique Chanas, Monique Hoarau, Monzer Tomeh, Moufida Bellou, Mouloud Bouzernidj, Mounia Ammor, Mounir Guergour, Mountassir Benzakour, Mourad Hachicha, Moussa Coulibaly, Mustafa Smati, Mustapha Al Morabiti, Mustapha Amirou, Myriam Isnard, Myriam Pastural, Myriam Pujo, Nourredine Boumendjel, Nabil Majbri, Nabila Goumri, Nadege Mingat, Nader Bassilios, Nadia Kerkeni, Nadia Sedrati, Nadia Soltani, Nadine Maroun, Nadine Neyrat, Nahn Luang, Najeh El Esper, Naji Ammar, Nasredine Ghali, Nasser Hamdini, Natacha Noel, Natacha Potelune, Nathalie Maisonneuve, Nathalie Pertuiset, Nathalie Raynal, Nathalie Vittoz, Nazim Terki, Nelly Castin, Nestor Nankeu, Nicolas Bouvier, Nicolas Keller, Nicolas Legros, Nicolas Peters, Nicolas Quirin, Nicole Lefrancois, Nicole Monnier, Nicole Rance, Niels Bruckmann, Noel Mertens, Nolwenn Lorcy, Olivia Gilbert, Olivier Coldefy, Olivier Drouineau, Olivier Dunand, Olivier Fritz, Olivier Imhoff, Olivier Kourilsky, Olivier Lavelle, Olivier Papin, Olivier Roques, Ophelie Le Maner, Oussamah Fikri Benbrahim, Pablo Antonio Erina Torres, Pablo Antonio Urena Torres, Paolo Malvezzi, Pascal Bindi, Pascal Cluzel, Pascal Fontanier, Pascal Wheatley, Pascale Depraetre, Pascale Dubosq, Pascale Halin, Pascale Sebahoun, Pascale Siohan, Pascale Testevuide, Patrice Deteix, Patrice Nolen, Patricia Hue, Patricia Lemarchand, Patrick Donnadieu, Patrick Fievet, Patrick Fohrer, Patrick Francais, Patrick Giraud, Patrick Hallonet, Patrick Henri, Patrick Michaut, Patrick Niaudet, Patrick Pauly, Patrick Thomas, Patrik Deleaval, Paul Finielz, Paul Stroumza, Paule Hardy Yverneau, Pauline Caillard, Pedro Palacin, Perrine Aubertin, Philippe Attias, Philippe Chauveau, Philippe Coindre, Philippe Coste, Philippe Dubot, Philippe Fournier, Philippe Hiernaux, Philippe Jousset, Philippe Lan Yue Wah, Philippe Lang, Philippe Le Cacheux, Philippe Martin Dupont, Philippe Michel, Philippe Mirgaine, Philippe Moriniere, Philippe Nicoud, Philippe Rieu, Philippe Rousseau, Philippe Sporer, Philippe Thorel, Philippe Vanhille, Philippe Vigeral, Philippe Zaoui, Pierre Bataille, Pierre Brignon, Pierre Filipozzi, Pierre Housset, Pierre Peyronnet, Pierre Ramperez, Pierre Vautrin, Pierre Alexandre Michel, Pierre Francois Westeel, Pierre Louis Carron, Pierre Yves Durand, Pierrot Parent, Piotr Seniuta, François Kuentz, Rabah Fraoui, Rachel Tetaz, Rachid Amaria, Rachid Bourouma, Rachid Djeffal, Rachida Nebbad, Radia Allal, Radu Dimulescu, Rafaat Boustani, Rafik Mesbah, Raifat Makdassi, Raji Diab, Raluca Puslenghea, Raoul Roura, Rateb Khayat, Raymond Azar, Raymond Frayssinet, Regine Monkam, Rehouni Boulahrouz, Remi Boudet, Renato Demontis, Renaud Gansey, Rene Cuvelier, Renee Schmitt, Reschad Noordally, Reynald Binaut, Rezkallah Latif, Richard Dufresne, Richard Montagnac, Richard Reade, Robert Genin, Robert Novo, Rocsana Fickl, Roger Dufresne, Roger Magnol, Roland Issautier, Romain Mortelette, Ronan Delaval, Ronan Lohro, Roseline M'barga, S. Beau, Clémentine Dupuis, Marie Jacques Vidil, Sabria Hacini, Said Dahmoune, Saliha Lekhal, Salima Ahriz Sakso, Salima Saksi, Salvatore Citarda, Samir Boubenider, Samuel Kassis, Sandra Verhille, Sandrine Genestier, Sandrine Muller, Saoussen Krid, Sarah Richter, Sebastien Delbes, Sebastien Mailliez, Sebastien Veillon, Sébastien Nony, Seddick Benarbia, Severine Beaudreuil, Sidi Ali Benyaghla, Simon Duquennoy, Simona Baluta, Simona Boncila, Sonia Mzoughi, Sonia Ribal, Sophie Acamer, Sophie Chauvet, Sophie Girerd, Sophie Ozenne, Sophie Parahy, Sophie Rubens Duval, Sophie Taque, Soraya Menouer, Soumaya Chargui, Stanislas Bataille, Stephane Barbier, Stephane Billion, Stephane Roueff, Stephane Torner, Stephane Jean Martin, Stephanie Coupel, Sylvie Cloarec, Sylvie Lavaud, Sylvie Leou, T. Chatelet, Tania Onesta, Tassadit Benhabib, Tayeb Bensalem, Theodora Dimulescu, Theophile Sawadogo, Thibault Dolley Hitze, Thierry Baranger, Thierry Boudemaghe, Thierry Hannedouche, Thierry Krummel, Thierry Milcent, Thomas Dervaux, Thomas Guincestre, Thomas Kofman, Thomas Raphael, Thomas Sadreux, Tim Ulinski, Tiphaine Guyon Roger, Tomas Serrato, Tomek Kofman, Tony Wong, Toufik Boubia, Ubald Assogba Gbindoun, Usama Khuzaie, Valerie Caudwell, Valerie Chatelet, Valerie Crougneau, Valerie De Precigout, Valerie Drouillat, Valerie Galantine, Valerie Granveau Hugot, Valerie Leroy, Veronique Boubia, Veronique Falque, Veronique Fournier, Veronique Queron, Veronique Viviani, Victor Gueuttin, Victor Panescu, Victorio Menoyo Calonge, Viet Nguyen, Vincent Allot, Vincent Delattre, Vincent Leduc, Vincent Pradier, Violaine Emal Aglae, Viorica Badulescu, Virginia Molina, Virginie Besson, Virginie Chaigne, Waddah Jaber, Wael Boudi, Wael El Haggan, Wen Qin Guillon, Wided Tabbi Aneni, William Hanf, Wladimir Kohn, Xavier Bellenfant, Xavier Moreau Gaudry, Yahsou Delmas, Yannick Knefati, Yannick Saingra, Yannick Tirolien, Youssef Mann, Yvan Brunak, Yves Dimitrov, Yves Doussy, Yves Tanter, Zaid Benabid, Zaara Soltani, Zacharia Boukerroucha, Zafer Takla, Zana Ramanantsialonina, Zara Dickson, Zead Tubail, Zoe Koochaki Pour, Zohra Boukhalfa, Zohra Jacquot, Agence de la biomédecine [Saint-Denis la Plaine], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université de Caen Normandie (UNICAEN), Normandie Université (NU), CALYDIAL Vienne, Partenaires INRAE, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Armand Trousseau [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service d'Epidémiologie et Evaluations Cliniques [CHRU Nancy] (Pôle S2R), Centre Universitaire des Maladies Rénales [CHU Caen] (CUMR Caen), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de Génomique Fonctionnelle (IGF), Université de Montpellier (UM)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS), Groupe hospitalier de la région de Mulhouse Sud-Alsace (GHRMSA), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Aide à la Décision pour une Médecine Personnalisé - Laboratoire de Biostatistique, Epidémiologie et Recherche Clinique - EA 2415 (AIDMP), Université Montpellier 1 (UM1)-Université de Montpellier (UM), Assistance Publique - Hôpitaux de Marseille (APHM), Service de diabétologie [CHU Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Service de Diabétologie [CHU Pitié-Salpétrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: 0301 basic medicine, Male, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Hemodialysis, Home, Disease, MESH: COVID-19 / therapy, registry, Ambulatory Care Facilities, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, MESH: Aged, 80 and over, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Risk Factors, 80 and over, Prevalence, covid, dialysis, epidemiology, mortality, Aged, Aged, 80 and over, COVID-19, Case-Control Studies, Critical Care, Female, France, Humans, Incidence, Middle Aged, Patient Acuity, Protective Factors, Registries, Renal Dialysis, SARS-CoV-2, Sex Factors, Hypoalbuminemia, MESH: France / epidemiology, education.field_of_study, Incidence (epidemiology), 3. Good health, MESH: COVID-19 / epidemiology, Nephrology, Hemodialysis, medicine.medical_specialty, Population, Lower risk, Article, 03 medical and health sciences, MESH: Sex Factors, Internal medicine, medicine, MESH: SARS-CoV-2, MESH: Renal Dialysis / statistics & numerical data, education, Dialysis, Vascular disease, business.industry, medicine.disease, Former Smoker, MESH: Critical Care / statistics & numerical data, 030104 developmental biology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Home, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MESH: Hemodialysis, Home / statistics & numerical data
Abstract: The aim of this study was to estimate the incidence of COVID-19 disease in the French national population of dialysis patients, their course of illness and to identify the risk factors associated with mortality. Our study included all patients on dialysis recorded in the French REIN Registry in April 2020. Clinical characteristics at last follow-up and the evolution of COVID-19 illness severity over time were recorded for diagnosed cases (either suspicious clinical symptoms, characteristic signs on the chest scan or a positive reverse transcription polymerase chain reaction) for SARS-CoV-2. A total of 1,621 infected patients were reported on the REIN registry from March 16th, 2020 to May 4th, 2020. Of these, 344 died. The prevalence of COVID-19 patients varied from less than 1% to 10% between regions. The probability of being a case was higher in males, patients with diabetes, those in need of assistance for transfer or treated at a self-care unit. Dialysis at home was associated with a lower probability of being infected as was being a smoker, a former smoker, having an active malignancy, or peripheral vascular disease. Mortality in diagnosed cases (21%) was associated with the same causes as in the general population. Higher age, hypoalbuminemia and the presence of an ischemic heart disease were statistically independently associated with a higher risk of death. Being treated at a selfcare unit was associated with a lower risk. Thus, our study showed a relatively low frequency of COVID-19 among dialysis patients contrary to what might have been assumed., Graphical abstract
Published: 2020
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13. P0003ADHERENCE BENEFITS OF ADV7103, AN INNOVATIVE PROLONGED-RELEASE ORAL COMBINATION PRODUCT, IN PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS

Author: Victor Navas Serrano, Pierre Cochat, Luc André Granier, Maria A. Manso-Silván, Aurélia Bertholet-Thomas, and Catherine Guittet
Subjects: Transplantation, medicine.medical_specialty, Kidney, business.industry, Urology, medicine.disease, Hypokalemia, Renal tubular acidosis, medicine.anatomical_structure, Distal renal tubular acidosis, Nephrology, Prolonged release, Combination Product, Medicine, In patient, Net acid excretion, medicine.symptom, business
Abstract: Background and Aims Distal renal tubular acidosis (dRTA) is a rare disorder leading to impaired net acid excretion by the kidney inducing hyperchloremic metabolic acidosis and hypokalemia. The therapeutic effect of the standard of care is of short duration and requires multiple day and night administrations; it is also often accompanied by gastrointestinal discomfort and poor palatability impacting medication adherence. ADV7103, the first advanced therapy for dRTA, consists of a combination of prolonged-release potassium citrate and prolonged-release potassium bicarbonate granules providing round-the-clock alkali and potassium coverage with twice daily administration. Long-term adherence with ADV7103 is reported, along with acceptability of the product. Method B22CS is a multicentre, open-label long-term extension study, evaluating safety, tolerability, acceptability and efficacy of ADV7103 in adult and paediatric patients with dRTA. Adherence was assessed at each study visit up to 24 months, based on accountability of study drug retrieval, laboratory results, and interview of the patients in a diary and expressed as the proportion of patients that presented adherence lower than 50%, between 50% and 74%, between 75 and 90%, and higher than to 90%. Treatment acceptability as well as quality of life of the patients and their parents were assessed using a 100-mm visual analogue scales (VAS). Results Table 1 shows the evolution of compliance between Month 6 and Month 24. Overall, of the 29 patients remaining in the study after 24 months, 18 (62%) had adherence rates >90%, 5 (17%) had adherence rates of 75-90%, 6 (21%) had adherence rates of 50-74%, and there were no patients with adherence Compared to the alkalising treatments they had before the study, more than 80% of the patients perceived both the improvement of the formulation and of the number of daily doses at scores ≥ 75 mm. The overall improvement of quality of life reported by the patients was of 89 ± 19 mm and that reported by their parents was of 90 ± 14 mm after 24 months of treatment. Conclusion Adherence to treatment was maintained at a high level throughout the 24 months of the study confirming the good acceptance of ADV7103 therapy.
Published: 2020
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14. Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs

Author: Christine Vianey-Saban, Pierre Cochat, Fabien Subtil, Ségolène Gaillard, Eurielle Bodénan, Denis Morin, Cécile Acquaviva-Bourdain, Patrice Nony, Aurélia Bertholet-Thomas, Cécile Rouges, Georges Deschênes, Justine Bacchetta, Valérie Laudy, Setareh Zarrabian, Sandrine Lemoine, Behrouz Kassai, Bruno Ranchin, Laurent Roche, Catherine Mercier, CarMeN, laboratoire, Centre d'Investigation Clinique [Bron] (CIC1407), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupement Hospitalier Est [Bron], Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Hôpital Edouard Herriot [CHU - HCL], Hôpital Robert Debré, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de référence des maladies rénales rares Néphrogones [CHU-HCL, Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CIC Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Investigation Clinique 1426 (CIC 1426), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Nephrology, Adult, Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Cysteamine, Cystinosis, 030232 urology & nephrology, Renal function, Age at diagnosis, 030204 cardiovascular system & hematology, Nephropathic cystinosis, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Nephropathic Cystinosis, Internal medicine, medicine, Humans, In patient, Prospective Studies, Prospective cohort study, Child, business.industry, Disease progression, Fanconi Syndrome, 3. Good health, [SDV] Life Sciences [q-bio], chemistry, Adherence, Child, Preschool, Pediatrics, Perinatology and Child Health, Medication event monitoring system, Female, Electronics, business
Abstract: International audience; INTRODUCTION: In nephropathic cystinosis (NC), adherence to cysteamine remains challenging; poor adherence is worsening the disease progression with a decline of kidney function and increase of extrarenal morbidities. Our objective was to describe adherence to cysteamine in NC patients, using electronic monitoring systems. METHODS: Patients with confirmed NC, aged \textgreater 4 years and receiving oral cysteamine (short acting or delayed release formulation as standard of care) from 3 French reference centers, were included. Adherence to treatment was primarily assessed as the percentage of days with a good adherence score, adherence score rating from 0 (poor) to 2 (good). A descriptive analysis was performed after 1-year follow-up. RESULTS: Seventeen patients (10 girls, median age: 13.9 (5.4-33.0) years) were included. Median age at diagnosis was 17.0 (3.0-76.9) months and age at start of cysteamine was 21.0 (15.5-116.3) months. Median daily dose of cysteamine was 1.05 (0.55-1.63) g/m(2)/day. Over the year, the median percentage of days with a good adherence score was 80 (1-99)% decreasing to 68 (1-99)% in patients \textgreater 11 years old. The median of average number of hours covered by treatment in a day was 22.5 (6.1-23.9) versus 14.9 (9.2-20.5) hours for delayed release versus short acting cysteamine. CONCLUSION: Our data are the first describing a rather good adherence to cysteamine, decreasing in adolescents and adults. We described a potential interest of the delayed release formulation. Our data highlight the need for a multidisciplinary approach including therapeutic education and individualized approaches in NC patients transitioning to adulthood. Graphical abstract.
Published: 2020
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15. Eplet incompatibility in pediatric renal transplantation

Author: Pierre Cochat, Justine Bacchetta, Bruno Ranchin, Valerie Dubois, Aurelia Bertholet Thomas, Andreea Liana Rãchişan, and Anne-Laure Sellier-Leclerc
Subjects: Graft Rejection, Male, medicine.medical_specialty, Adolescent, Pediatric transplantation, Normal Distribution, 030232 urology & nephrology, Renal graft, Human leukocyte antigen, 030230 surgery, Gastroenterology, Epitopes, 03 medical and health sciences, 0302 clinical medicine, HLA Antigens, Isoantibodies, HLA-DQ Antigens, Internal medicine, Living Donors, medicine, Humans, Child, Transplantation, business.industry, Histocompatibility Testing, Graft Survival, Mean age, Kidney Transplantation, Histocompatibility, Pediatrics, Perinatology and Child Health, Cohort, Kidney Failure, Chronic, Female, Immunization, business, Software
Abstract: Eplet incompatibility appears to be a better predictor of the de novo appearance of DSA post-Tx than HLA antigen matching in adults. We evaluated the HLA Matchmaker® software (version 2.1) in our pediatric cohort to predict the appearance of DSA post-Tx. We included 70 pediatric patients (26 girls, 10 living donors, mean age 11.2 ± 3.9 years) after a first R-Tx (January 2010-August 2016), without prior immunization, having complete HLA typing (A, B, C, DRB1 and DQB1) and DSA follow-up for at least one year. The mean of HLA and eplet incompatibilities was 4.7 ± 1.3 and 15.5 ± 6.1, respectively, with a correlation coefficient r2 between these two variables of 0.34 (P < .001). The eplet load was 12.8 ± 5.0 in living donors vs 15.9 ± 6.2 in deceased donors (P = NS), 12.6 ± 6.1 in preemptive R-Tx (n = 14) vs 16.3 ± 5.9 for non-preemptive R-Tx (P = .04). Seven patients (10%) developed DSA during the 3.5 ± 1.2 years post-Tx. The eplet load was 13.7 ± 5.5 for those who developed DSA vs 15.7 ± 6.1 for the others (P = NS). In our single-center series of pediatric R-Tx with good HLA matching and lower eplet load than previously published series, eplet incompatibilities do not predict the development of DSA. The question of the HLA matching requirement and the daily interest of the HLA Matchmaker® software to help select the grafts remain open.
Published: 2020
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16. Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

Author: Cécile Acquaviva-Bourdain, Débora Claramunt-Taberner, Ségolène Gaillard, Irma Machuca-Gayet, Justine Bacchetta, Aurélia Bertholet-Thomas, Thomas Quinaux, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Maladies Rares du Calcium et du Phosphore (HFME - HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacologie Clinique, CHU-Lyon, Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL), and Machuca-Gayet, Irma
Subjects: 0301 basic medicine, Bone disease, [SDV]Life Sciences [q-bio], Cystinosis, 030232 urology & nephrology, mTor signaling, Review, Bioinformatics, Nephropathic cystinosis, lcsh:Chemistry, chemistry.chemical_compound, 0302 clinical medicine, Bone cell, Renal osteodystrophy, lcsh:QH301-705.5, Spectroscopy, 2. Zero hunger, Osteoblast, Renal osteodystrophy (ROD), General Medicine, 3. Good health, Computer Science Applications, [SDV] Life Sciences [q-bio], Cystinosin, Osteoclast, Bone Remodeling, Bone Diseases, Cysteamine, Catalysis, Metabolic bone disease, Inorganic Chemistry, 03 medical and health sciences, Nephropathic Cystinosis, medicine, CKD-MBD, Animals, Humans, Physical and Theoretical Chemistry, Bone, Molecular Biology, Chronic Kidney Disease-Mineral and Bone Disorder, business.industry, Organic Chemistry, medicine.disease, 030104 developmental biology, Amino Acid Transport Systems, Neutral, lcsh:Biology (General), lcsh:QD1-999, chemistry, Orphan disease, Mutation, business
Abstract: International audience; Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the CTNS gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of management relies on cysteamine therapy to decrease lysosomal cystine accumulation in target organs. However, despite cysteamine therapy, patients display severe bone symptoms, and the concept of "cystinosis metabolic bone disease" is currently emerging. Even though its exact pathophysiology remains unclear, at least five distinct but complementary entities can explain bone impairment in addition to CKD-MBD: long-term consequences of renal Fanconi syndrome, malnutrition and copper deficiency, hormonal disturbances, myopathy, and intrinsic/iatrogenic bone defects. Direct effects of both CTNS mutation and cysteamine on osteoblasts and osteoclasts are described. Thus, the main objective of this manuscript is not only to provide a clinical update on bone disease in cystinosis, but also to summarize the current experimental evidence demonstrating a functional impairment of bone cells in this disease and to discuss new working hypotheses that deserve future research in the field.
Published: 2020
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17. Mutations PKHD1 dans la polykystose autosomique récessive : corrélations génotype–phénotype dans une série de 308 cas pour guider le diagnostic anténatal

Author: Justine Bacchetta, Aurélia Bertholet-Thomas, Laurence Michel-Calemard, Suzy Hamo, Bruno Ranchin, and Pierre Cochat
Subjects: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Nephrology, business.industry, 030232 urology & nephrology, Medicine, business, 030217 neurology & neurosurgery, Autosomal Recessive Polycystic Kidney Disease
Abstract: Resume Objectif La polykystose renale recessive (PKR) est due a des mutations du gene PKHD1. L’objectif de l’etude est de caracteriser la variabilite phenotypique en fonction des differentes mutations de PKHD1. Methodes L’etude a ete realisee chez 308 patients atteints de PKR, diagnostiques dans notre laboratoire de genetique. Les medecins prescripteurs des analyses genetiques avaient fourni des donnees cliniques et biologiques minimales. Resultats Les patients ont ete divises en trois groupes genotypiques : le premier groupe (G1 ; n = 65) concernait les patients ayant deux mutations tronquantes, le second groupe (G2 ; n = 117) des patients avec une mutation tronquante et une mutation non tronquante, et le troisieme groupe (G3 ; n = 126) etait constitue des patients ayant deux mutations non tronquantes. Au total, 31 % des grossesses ont fait l’objet d’une interruption medicale de grossesse, 18 % des enfants sont decedes en periode neonatale, et 51 % des patients ont survecu apres la periode neonatale ; la proportion des patients ayant un phenotype severe (defini par une interruption medicale de grossesse ou un deces neonatal) etait significativement plus elevee dans le groupe G1 : 94 %, par rapport aux groupes G2 (47 %) et G3 (27 % ; p Conclusion La presence de deux mutations tronquantes du gene PKHD1 est associee a un phenotype perinatal et post-natal severe. Toutefois, la variabilite phenotypique des autres groupes genotypiques necessite une discussion au cas par cas lors du diagnostic antenatal.
Published: 2018
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18. Cistinosis y síndrome de Fanconi

Author: C Acquaviva, C Vianey-Saban, H Liang, G Deschênes, Justine Bacchetta, Pierre Cochat, S. Lemoine, A. Bertholet-Thomas, A Labbé, and Aude Servais
Subjects: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, business.industry, 030232 urology & nephrology, Medicine, business, Humanities
Abstract: El sindrome de Fanconi o de De Toni- Debre-Fanconi consiste en una insuficiencia tubular proximal que comporta una sintomatologia clinica comun mas o menos completa y que tiene numerosas etiologias primarias o adquiridas. El tubulo proximal es el principal punto de reabsorcion de agua y de muchos electrolitos, a traves de diversos mecanismos: reabsorcion activa o paracelular, transportadores especificos o endocitosis. Los signos clinicos y biologicos asocian principalmente, en funcion de la edad: poliuria-polidipsia, raquitismo u osteomalacia por fosfato-diabetes, retraso del crecimiento ponderoestatural multifactorial y acidosis por perdida de bicarbonato. La etiologia mas frecuente de las formas primarias es la cistinosis, una enfermedad lisosomica autosomica recesiva poco frecuente debida a numerosas mutaciones del gen CTNS que codifica la cistinosina. La compleja fisiopatologia va mas alla de la simple acumulacion de cistina en los tejidos: alteracion de las vias de senalizacion de endocitosis, autofagia y apoptosis celular. Los primeros signos clinicos aparecen hacia los 6 meses de edad, con un sindrome de Fanconi completo y grave. El diagnostico, que clasicamente se establece hacia la edad de 1 ano, constituye una urgencia terapeutica mediante la correccion de la tubulopatia proximal que causa el fallecimiento en la infancia y mediante el inicio temprano de la administracion de cisteamina por via oral, que condiciona el pronostico renal y extrarrenal a largo plazo. La afectacion corneal requiere la aplicacion de cisteamina por via topica varias veces al dia. En 30 anos, el perfil evolutivo de la enfermedad se ha transformado gracias a la cisteamina: retraso de la edad de la insuficiencia renal terminal y de las complicaciones extrarrenales (hipotiroidismo, diabetes, complicaciones neuromusculares); el 50% de los pacientes son ahora adultos, lo que comporta la creacion de consultas multidisciplinarias adaptadas a ellos que, hasta hace pocos anos, solo estaban formadas por nefropediatras.
Published: 2018
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19. Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment

Author: Ségolène Gaillard, Aurélia Bertholet-Thomas, Martine Cohen-Solal, Georges Deschênes, Pierre Cochat, Pawel Szulc, Debora Claramunt-Taberner, Elisabeth Sornay-Rendu, Solenne Pelletier, Marie-Christine Carlier, and Justine Bacchetta
Subjects: Adult, Male, 0301 basic medicine, Nephrology, medicine.medical_specialty, Adolescent, Bone disease, Cysteamine, Cystinosis, 030232 urology & nephrology, Urology, Pilot Projects, Severity of Illness Index, Young Adult, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Bone Density, Nephropathic Cystinosis, Internal medicine, Cortical Bone, Prevalence, medicine, Humans, Prospective Studies, Tibia, Quantitative computed tomography, Child, Bone pain, Bone mineral, medicine.diagnostic_test, business.industry, Age Factors, medicine.disease, Transplantation, Fibroblast Growth Factor-23, Radius, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Bone Diseases, medicine.symptom, Tomography, X-Ray Computed, business, Biomarkers
Abstract: Bone impairment appears to be a novel complication of nephropathic cystinosis despite cysteamine therapy. Its exact underlying pathophysiology is nevertheless unclear. The objective of this study was to evaluate bone status among patients included in the French Crystobs study. In addition to clinical data, bone status was evaluated using biomarkers (ALP, PTH, 25-D, 1-25D, FGF23), DXA (spine and total body), and high-resolution peripheral quantitative computed tomography (HR-pQCT) at the tibia and radius. Results were compared to age- and gender-matched healthy controls (1:2 basis) from the local reference cohorts. At a median age of 22.5 (10.2–34.6) years, 10 patients with nephropathic cystinosis were included (2 receiving conservative therapies, 2 undergoing hemodialysis, 6 with a past of renal transplantation); 7 out of 10 patients complained of a bone symptom (past of fracture, bone deformations, and/or bone pain). Biochemicals and spine DXA did not show any significant abnormalities. Using HR-pQCT, significant decreases in cortical parameters (e.g., cortical thickness 850 (520–1100) versus 1225 (480–1680) μm; p
Published: 2018
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20. Néphrologie pédiatrique : que doit savoir un néphrologue d’adulte sur ces pathologies ?

Author: Catherine Bonnefoy, Pierre Cochat, Charlène Levi, Justine Bacchetta, Aurélia Bertholet-Thomas, Anne-Laure Sellier-Leclerc, and Sandrine Lemoine
Subjects: 0301 basic medicine, Nephrology, medicine.medical_specialty, Pediatrics, business.industry, 030232 urology & nephrology, Specific knowledge, urologic and male genital diseases, medicine.disease, Idiopathic Nephrotic Syndrome, female genital diseases and pregnancy complications, Primary hyperoxaluria, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Cystinosis, medicine, Pediatric nephrology, business
Abstract: In nephrology, some diseases begin specifically during childhood; however, they must be known by adult nephrologists so that to ensure continuity and homogeneity for their management. The aim of this review is therefore to propose a brief overview of the main pediatric diseases, for which a specific knowledge is warranted, and notably pediatric idiopathic nephrotic syndrome, cystinosis, primary hyperoxaluria and hereditaries tubulopathies.
Published: 2017
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21. Intoxication néonatale à la vitamine D chez des anciens prématurés : une série de 16 cas

Author: S. Laborie, Justine Bacchetta, Jean-Charles Picaud, Aurélia Bertholet-Thomas, M. Vierge, Olivier Claris, and M.-C. Carlier
Subjects: Gynecology, medicine.medical_specialty, business.industry, Vitamin d poisoning, medicine.disease, Body weight, vitamin D deficiency, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, medicine, Vitamin D and neurology, 030212 general & internal medicine, business
Abstract: Resume Introduction Les recommandations internationales pour l’administration de la vitamine D (25-OH) chez les prematures sont divergentes (800–1000 UI/jour en Europe, 200 UI/kg sans depasser 400 UI/j aux Etats-Unis). Les nouveau-nes prematures de faible poids de naissance sont a risque de carence, mais egalement de surdosage en 25-OH. Methode Entre 2013 et 2015, 16 anciens prematures ( Resultats L’âge gestationnel etait de 27 (24–35) SA pour un poids de 810 (560–2120) grammes. Le signe d’appel du surdosage en 25-OH avait ete une nephrocalcinose (37 %), une hypercalcemie (44 %) ou une hypercalciurie (19 %). L’âge le jour du signe d’appel etait de 36,6 (27,6–47,6) SA. Un dosage de 25-OH avait ete realise 13 (0–281) jours apres le signe d’appel ; la concentration en 25-OH etait alors de 210 (119–350) nmol/L et celle en 1-25(OH), lorsqu’elle avait ete mesuree (n = 10), de 370 (245–718) pmol/L. Apres arret de la supplementation, la 25-OH s’etait normalisee chez 10 patients dans un delai de 10 (3–32) mois. Conclusion Le diagnostic de surdosage en 25-OH chez les anciens prematures doit etre envisage devant l’existence d’une nephrocalcinose, d’une hypercalcemie ou d’une hypercalciurie. Il justifie la realisation d’un dosage de la 25-OH. La supplementation en vitamine D est essentielle pour une formation osseuse optimale mais les objectifs cibles superieurs ne devraient probablement pas exceder 120 nmol/L.
Published: 2017
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22. The interest of oral calcium loads test in the diagnosis and management of pediatric nephrolithiasis with hypercalciuria: Experience from a tertiary pediatric centre

Author: Arnaud Molin, Sandrine Lemoine, Christelle Machon, Aurélia Bertholet-Thomas, Laurence Dubourg, Mélodie Mosca, Justine Bacchetta, Charlotte Garnier, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hôpital Edouard Herriot [CHU - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Institut des Sciences Pharmaceutiques et Biologiques (ISPB), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), CCSD, Accord Elsevier, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Laboratoire Génie de Production (LGP), Ecole Nationale d'Ingénieurs de Tarbes, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), and Université de Lyon
Subjects: Pediatrics, medicine.medical_specialty, Adolescent, Urology, [SDV]Life Sciences [q-bio], Hypercalciuria, 030232 urology & nephrology, chemistry.chemical_element, Calcium, Nephrolithiasis, 03 medical and health sciences, Kidney Calculi, 0302 clinical medicine, 030225 pediatrics, Calcium load, Vitamin D and neurology, Pediatric nephrology, Medicine, Humans, In patient, Oral calcium, Child, Retrospective Studies, business.industry, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], chemistry, Carbapatite, Pediatrics, Perinatology and Child Health, Absorptive hypercalciuria, business
Abstract: Summary Introduction The use of calcium load has been forgotten in pediatrics until recently whereas it is of utmost importance to have a practical approach to guide management of hypercalciuric nephrolithiasis. Objective The purpose of this study was to evaluate the practical interest of oral calcium loads to improve the overall management of nephrolithiasis in children. Methods We retrospectively studied all pediatric patients having undergone an oral calcium load in our pediatric nephrology unit between September 2015 and April 2017. Results A total of 16 patients were included, at a median age of 12.0 (5.5–17.5) years. The indications of oral calcium load were: presence of an active urolithiasis without any obvious explanation after ruling out the “classical” biological abnormalities, or presence of hypercalciuria with stones composed of weddellite or carbapatite crystals. Among the 16 patients, 6 (38%) patients displayed absorptive hypercalciuria, 2 (12%) renal leak, 3 (19%) “unclassified” inadapted PTH, and 5 (31%) a normal calcium load test. The result of oral calcium load modified the clinical management in 14 (88%) patients, mainly based on the type of hypercalciuria. It allowed us to individualize nutritional advice: in patients with absorptive hypercalciuria, we proposed calcium intake within the lower normal range for age with dairy products not enriched with vitamin D, with the advice to avoid salt and calcium loads during evenings. Conversely, in patients with resorptive hypercalciuria, we proposed normal calcium intake for age. Showing the results of the calcium load is meaningful to patients and parents, and can be considered as an “educational” tool. Discussion To the best of our knowledge, this study is the first to evaluate the interest of calcium load in children with nephrolithiasis in an era of routine PTH and 1-25-D assessment. Here, we demonstrate the feasibility and safety of oral calcium load in children, its interest to understand the underlying mechanisms of hypercalciuria, and its major interest as an “educational tool” for patients to explain them the underlying mechanisms and thus guide the therapeutic management using an individualized dietary approach. This study did not include many patients, but to the best of our knowledge, this is the first study evaluating and validating the feasibility of a safe and non-expensive diagnosis tool in pediatric hypercalciuria. Conclusion Oral calcium load is helpful to guide therapeutic adaptation in pediatrics using an individualized dietary approach. Download : Download high-res image (140KB) Download : Download full-size image Summary Figure
Published: 2020
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23. Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story

Author: Cécile Acquaviva-Bourdain, Catherine Cornu, Fabien Subtil, Patrice Nony, Catherine Mercier, Christine Vianey-Saban, Denis Morin, Georges Deschênes, Aurélia Bertholet-Thomas, Ségolène Gaillard, Behrouz Kassai, Pierre Cochat, Laurent Roche, EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacologie Clinique, Hospices Civils de Lyon, 69677 Bron, France, parent, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Hôpital Robert Debré Paris, Hôpital Robert Debré, Structural Impact Laboratory (SIMLab), Centre for Research-based Innovation (CRI), Norwegian University of Science and Technology [Trondheim] (NTNU), Norwegian University of Science and Technology (NTNU)-Norwegian University of Science and Technology (NTNU), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal [CHU Lyon] (Centre de Biologie et Pathologie Est), Hospices Civils de Lyon (HCL)-Groupement Hospitalier Est, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon, Hospices Civils de Lyon (HCL), Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Centre de référence des maladies rénales rares Néphrogones [CHU-HCL, Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Motricité, interactions, performance EA 4334 / Movement - Interactions - Performance (MIP), Le Mans Université (UM)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes - UFR des Sciences et Techniques des Activités Physiques et Sportives (UFR STAPS), Université de Nantes (UN)-Université de Nantes (UN), EPICIME-CIC 1407 de Lyon, Inserm, Service de Pharmacologie Clinique, CHU-Lyon, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and CCSD, Accord Elsevier
Subjects: [SDV]Life Sciences [q-bio], Population, Disease, 030226 pharmacology & pharmacy, Patient advocacy, Nephropathic cystinosis, Clinical research, 03 medical and health sciences, 0302 clinical medicine, Nursing, Multidisciplinary approach, Nephropathic Cystinosis, Medicine, Pharmacology (medical), education, [SDV.IB] Life Sciences [q-bio]/Bioengineering, education.field_of_study, business.industry, 3. Good health, Rare diseases, Clinical trial, [SDV] Life Sciences [q-bio], [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.IB]Life Sciences [q-bio]/Bioengineering, business, Rare disease
Abstract: International audience; Rare diseases usually concern small and disseminated population. Implementing clinical research with the right design, outcomes measures and the recruitment of patients are challenges. Collaborations, training and multidisciplinary approach are often required. In this article, we provide an overview of a successful collaboration in nephropathic cystinosis (NC), focusing on what was the key of success, the interactions between academics, the pharmaceutical company and patients organizations. NC is considered as a very rare disease. In 2010, a new formulation of cysteamine, the only available treatment to improve renal outcome of the disease, was proposed by a small American company. Studies were implemented in France under the coordination of an expert of the disease and the clinical investigation center of Lyon. The collaboration resulted in a good recruitment and retention of the patients in the study and most of all in the availability of the new formulation in France. Patients could have facilitated the research by being involved in the early stages of the studies. Involving patients and public early in the process is particularly important in rare diseases as the patient is a great source of knowledge and has his own expectations. Priorities of research, design, conduct and reporting of clinical trials can be defined in collaboration with adults but also with young patients or public, the first concerned in rare diseases. This concept is still to be developed and improved especially with paediatric patients.
Published: 2020
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24. Intermittent cholecalciferol supplementation in children and teenagers followed in pediatric nephrology: data from a prospective single-center single-arm open trial

Author: Aurélia Bertholet-Thomas, Bruno Ranchin, Odile Basmaison, Behrouz Kassai-Koupai, Anne-Laure Sellier-Leclerc, Manon Aurelle, and Justine Bacchetta
Subjects: Male, medicine.medical_specialty, Adolescent, Calcium-Regulating Hormones and Agents, Administration, Oral, Gastroenterology, vitamin D deficiency, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Vitamin D and neurology, Humans, Hypercalciuria, 030212 general & internal medicine, Renal Insufficiency, Chronic, Vitamin D, Child, Cholecalciferol, Creatinine, business.industry, medicine.disease, Vitamin D Deficiency, Urinary calcium, Transplantation, Fibroblast Growth Factor-23, chemistry, Pediatrics, Perinatology and Child Health, Female, business, Kidney disease
Abstract: Vitamin D deficiency is frequent in pediatric nephrology. The 2017 European guidelines recommend keeping 25OH vitamin D (25-D) levels within the 75-120 nmol/L range, ideally with daily supplementation. Intermittent supplementation with D3 has also been proposed. We aimed to assess the influence of our local protocol of intermittent vitamin D supplementation on the evolution of 25-D levels between baseline and 2 months. VITATOL is a prospective single-center study performed in our tertiary unit in children and teenagers followed for chronic kidney disease (CKD), kidney transplantation, or stable chronic nephrotic syndrome with 25-D levels below 75 nmol/L. Intermittent oral cholecalciferol (100,000 IU) was administered depending on baseline vitamin D levels and body weight. The primary outcome was the change in 25-D levels between baseline and 2 months. Secondary outcomes were the evolution of the main mineral biomarkers. Thirty-seven patients were included. Two months after beginning supplementation, corresponding to a median(min-max) of 46 (14-79) days after the last dose of vitamin D, 25-D levels increased from 50 to 76 nmol/L (p 0.001), 18 patients having 25-D levels within the target range and 2 above. All patients displayed 25-D levels above 50 nmol/L. There were no significant changes in phosphate, PTH, alkaline phosphatase, and FGF23 levels before and after supplementation. Calcium levels increased from 2.39 to 2.44 mmol/L (p = 0.017), but no differences in calciuria and urinary calcium/creatinine ratio were observed.Conclusion: This vitamin D supplementation protocol using intermittent moderate doses of cholecalciferol seems efficient in 54% of cases, with neither significant overdose nor hypercalciuria. What is Known: • Vitamin D deficiency is frequent in pediatric nephrology. • The 2017 European guidelines recommend keeping 25OH vitamin D levels within the 75-120 nmol/L range ideally with daily supplementation, but intermittent supplementation with D3 has also been proposed. What is New: • We assessed the influence of a local protocol of intermittent vitamin D supplementation on the evolution of 25-D levels between baseline and 2 months in children and teenagers followed in pediatric nephrology. • The intermittent cholecalciferol supplementation protocol seems efficient in 54% of cases, with neither significant overdose nor hypercalciuria.
Published: 2019

25. Intermittent bi-daily sub-cutaneous teriparatide infusion in children with hypoparathyroidism: a single-centre experience

Author: Justine Bacchetta, Sacha Flammier, Aurélia Bertholet-Thomas, and Corentin Tanne
Subjects: Single centre, Pediatrics, medicine.medical_specialty, Hypoparathyroidism, business.industry, Teriparatide, Medicine, General Medicine, business, medicine.disease, medicine.drug
Published: 2019
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26. PRO9 ADV7103 Treatment Adherence in Patients with Distal Renal Tubular Acidosis (DRTA)

Author: C. Guittet, M. Manso, P. Goodyer, and A. Bertholet-Thomas
Subjects: medicine.medical_specialty, Distal renal tubular acidosis, Treatment adherence, business.industry, Health Policy, Public Health, Environmental and Occupational Health, Urology, Medicine, In patient, business, medicine.disease
Published: 2021
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27. Diagnostic et prise en charge de la maladie rénale chronique de l’enfant : recommandations de la Société de néphrologie pédiatrique (SNP)

Author: R. Vieux, Christine Pietrement, Laurence Dubourg, Jérôme Harambat, Aurélia Bertholet-Thomas, Justine Bacchetta, Georges Deschênes, and Emma Allain-Launay
Subjects: Pediatrics, medicine.medical_specialty, business.industry, Hospital setting, 030232 urology & nephrology, MEDLINE, Renal function, Disease, 030204 cardiovascular system & hematology, urologic and male genital diseases, medicine.disease, female genital diseases and pregnancy complications, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Pediatrics, Perinatology and Child Health, medicine, Disease management (health), business, Mass screening, Kidney disease
Abstract: These guidelines are intended to assist physicians in the care of children with chronic kidney disease (CKD), defined in children as in adults, regardless of its cause. Often silent for a long time, CKD can evolve to chronic renal failure or end-stage renal disease. Its management aims at slowing disease progression and treating CKD complications as soon as they appear. The different aspects of pediatric CKD care are addressed in these guidelines (screening, treatment, monitoring, diet, quality of life) as proposed by the French Society of Pediatric Nephrology. Highly specialized care provided in the hospital setting by pediatric nephrologists is not detailed.
Published: 2016
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28. Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

Author: Massimo Di Maio, Véronique Baudouin, Alexandre Klein, Robert Novo, Aurélia Bertholet-Thomas, Emilija Golubovic, Jérôme Harambat, François Nobili, Ludmila Podracka, Bertrand Knebelmann, Maria A. Manso-Silván, Luc-André Granier, Olivia Gillion-Boyer, Gwenaëlle Roussey-Kesler, Catherine Guittet, Arnaud Castang, Christos Stylianou, and Mathilde Cailliez
Subjects: Nephrology, medicine.medical_specialty, Intention-to-treat analysis, business.industry, 030232 urology & nephrology, Urology, Urine, 030204 cardiovascular system & hematology, medicine.disease, 6. Clean water, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Distal renal tubular acidosis, Tolerability, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Dosing, business, Lead (electronics), Combination drug
Abstract: Distal renal tubular acidosis (dRTA), due to impaired acid secretion in the urine, can lead to severe long-term consequences. Standard of care (SoC) oral alkalizers, requiring several daily intakes, are currently used to restore normal plasma bicarbonate levels. A new prolonged-release formulation, ADV7103, has been developed to achieve a sustained effect with an improved dosing scheme. In a multicenter, open-label, non-inferiority trial (n = 37), patients with dRTA were switched from SoC to ADV7103. Mean plasma bicarbonate values and proportion of responders during steady state therapy with both treatments were compared, as were other blood and urine parameters, as well as acceptability, tolerability, and safety. When switching from SoC to ADV7103, the number of daily intakes was reduced from a median of three to twice daily. Mean plasma bicarbonate was increased and non-inferiority of ADV7103 was demonstrated (p
Published: 2020
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29. Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report

Author: Nathalie Tram, Arnaud Molin, Laurence Dubourg, Sandrine Lemoine, Aurélia Bertholet-Thomas, Justine Bacchetta, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Faculté de medecine Lyon Est, université Lyon 1, 69008 Lyon, France, and parent
Subjects: Fibroblast growth factor 23, Male, medicine.medical_specialty, Adolescent, NPT2c, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Renal function, Parathyroid hormone, Sodium-Phosphate Cotransporter Proteins, Type IIc, chronic kidney disease (CKD), Risk Assessment, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, fluconazole, medicine, Humans, 25-dihydroxyvitamin D (1, case report, Hypercalciuria, Genetic Predisposition to Disease, 030212 general & internal medicine, 1alpha-hydroxylase, Vitamin D3 24-Hydroxylase, hypercalciuria, phosphate, Reabsorption, business.industry, medicine.disease, 3. Good health, Pedigree, off-label drug, Nephrocalcinosis, Endocrinology, Treatment Outcome, Nephrology, 25(OH)(2)D), Slc34a3, mutation, business, Hypophosphatemia, Kidney disease, Follow-Up Studies
Abstract: Mutations in the SLC34A3 gene, encoding the sodium/phosphate cotransporter 2C (NPTIIc), induce decreased renal phosphate reabsorption, hypophosphatemia, decreased fibroblast growth factor 23 and parathyroid hormone, and increased 1,25-dihydroxyvitamin D (1,25[OH]2D) levels. The complete phenotype is characterized by hypophosphatemia, hypercalciuria, and nephrolithiasis/nephrocalcinosis, leading to chronic kidney disease and osteoporosis in adults. We report a 15-year-old boy referred for nephrocalcinosis. The patient demonstrated hypercalcemia, hypercalciuria, normal serum phosphate level, normal tubular phosphate reabsorption, and increased serum 1,25(OH)2D level with suppressed serum parathyroid hormone. Compound heterozygous mutations in SLC34A3 were found. Hydrochlorothiazide failed to decrease calciuria. Fluconazole, an inhibitor of 1alpha-hydroxylase, was effective in normalizing calciuria without decreasing glomerular filtration rate. We conclude that children with SLC334A3 mutations can present with a less-typical phenotype, having normal serum phosphate levels and normal renal phosphate reabsorption. Genetic abnormalities of NPTIIc should be considered in cases of increased 1,25(OH)2D levels without mutations in CYP24A1. The utility of fluconazole to decrease 1,25(OH)2D levels requires confirmation in larger studies.
Published: 2019
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30. Calcium balance in pediatric online hemodiafiltration: Beware of sodium and bicarbonate in the dialysate

Author: Bruno Ranchin, Anne-Laure Sellier-Leclerc, Regine Cartier, Aurélia Bertholet-Thomas, Pierre Cochat, Marie-Christine Carlier, and Justine Bacchetta
Subjects: Male, medicine.medical_specialty, Adolescent, Calcium balance, Bicarbonate, Sodium, Urology, chemistry.chemical_element, Hemodiafiltration, Calcium, Pediatrics, Dialysate calcium, Plasma electrolytes, chemistry.chemical_compound, Internal medicine, Humans, Medicine, Child, Retrospective Studies, business.industry, Online hemodiafiltration, Hemodialysis Solutions, Bicarbonates, Endocrinology, chemistry, Nephrology, Child, Preschool, Female, business, Low sodium
Abstract: Background Online hemodiafiltration (oHDF) is increasingly used in children; we treated 28 children since 2009, adapting this technique to pediatric patients. Methods In this service evaluation audit, we assessed plasma electrolytes to evaluate the evolution of total (tCa) and ionized (iCa) during a session, as well as dialysate calcium (dCa) concentrations. Results Using a 1.25 mmol Ca/L-dialysate, both tCa and iCa decreased during the session, with iCa falling below 1.1 mmol/L in 4/5 patients. In contrast, using a 1.5 mmol Ca/L-dialysate, iCa remained normal in all patients. Major discrepancies were observed between the expected and the measured dCa: 1.25 vs. 1.01 (0.83–1.04), and 1.5 vs. 1.47 (0.85–1.75) mmol/L, respectively (results presented as median [range]). These differences were explained by the modality of reconstituting dialysate: increasing bicarbonates and/or decreasing sodium requested in the dialysate decreases calcium extraction from the acid preparation. Proof of concept was given when requesting in an “ex-vivo” setting modifications in the requested sodium and bicarbonate in dialysate directly on the Fresenius machine. Conclusion Nephrologists should be aware that “high bicarbonate and/or low sodium” requirements in oHDF decrease calcium in the dialysate.
Published: 2015
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31. Supplémentation en vitamine D : ni trop, ni trop peu !

Author: C. Freychet, Aurélia Bertholet-Thomas, Justine Bacchetta, A.-L. Poulat, Pierre Cochat, C. Vuillerot, and S. Hamo
Subjects: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, business
Abstract: Resume Le deficit en vitamine D est frequent dans la population generale et encore plus chez les patients souffrant de maladies chroniques. La prevention du rachitisme par la supplementation en vitamine D est l’une des mesures prophylactiques efficaces les plus anciennes connues en medecine. Elle a pratiquement eradique le rachitisme dans les pays developpes. Nous rapportons le cas de deux enfants, l’un ayant developpe un rachitisme mixte (carentiel et iatrogene lie aux antiepileptiques) et l’autre ayant presente un tableau d’hypercalcemie severe symptomatique secondaire a une intoxication a la vitamine D. Nous rappelons l’importance de la supplementation en vitamine D qui doit obeir a des regles precises : ni excessive, ni insuffisante. Par ailleurs, en dehors des exceptionnels surdosages en vitamine D, il doit etre tenu compte du risque d’hypercalcemie par mutation de la 24-hydroxylase ( CYP24A1 ).
Published: 2015
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32. Skeletal impairment in Pierson syndrome: Is there a role for lamininβ2 in bone physiology?

Author: Edith Bonnelye, Bruno Ranchin, Irma Machuca-Gayet, Justine Bacchetta, Martin Zenker, Delphine Farlay, Camille Beaufils, Caroline Freychet, Alice Fassier, Aurélia Bertholet-Thomas, Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génomique Fonctionnelle de Lyon (IGFL), École normale supérieure de Lyon (ENS de Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institute of Human Genetics, University Hospital Magdeburg, Université Grenoble Alpes - UFR Médecine - Département de Maïeutique (UGA UFRMDM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre de référence des maladies rénales rares Néphrogones [CHU-HCL, Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de Néphrologie Rhumatologie Dermatologie, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-HCL Groupement Hospitalier Est-Centre de référence Maladies Rénales Rares, École normale supérieure - Lyon (ENS Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université Grenoble Alpes (UGA), HCL Groupement Hospitalier Est-Hôpital Femme Mère Enfant [CHU - HCL] (HFME), and Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de référence Maladies Rénales Rares
Subjects: 0301 basic medicine, medicine.medical_specialty, Histology, Nephrotic Syndrome, Adolescent, Physiology, Endocrinology, Diabetes and Metabolism, 030232 urology & nephrology, Renal function, Scoliosis, 03 medical and health sciences, 0302 clinical medicine, Laminin, Pupil Disorders, Internal medicine, Medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Congenital nephrotic syndrome, ComputingMilieux_MISCELLANEOUS, Myasthenic Syndromes, Congenital, Kidney, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, biology, business.industry, Neuromuscular Diseases, Microcoria, medicine.disease, Tacrolimus, Transplantation, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, Mutation, biology.protein, Female, business
Abstract: Introduction Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. Methods We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome. Genetic analysis revealed a truncating mutation and a splice site mutation of LAMB2. The patient received a renal transplantation (R-Tx) at the age of 3. After R-Tx, renal evolution was simple, the patient receiving low-dose corticosteroids, tacrolimus and mycophenolate mofetil. At the age of 12, bone deformations progressively appeared. At the time of bone impairment, renal function was subnormal (glomerular filtration rate using iohexol clearance 50 mL/min per 1.73 m2), and parameters of calcium/phosphate metabolism were normal (calcium 2.45 mmol/L, phosphorus 1.30 mmol/L, PTH 81 ng/L, ALP 334 U/L, 25OH-D 73 nmol/L). Radiographs showed major deformations such as scoliosis, genu varum and diffuse epiphyseal abnormalities. A high resolution scanner (HR-pQCT) was performed, demonstrating a bone of “normal low” quantity and quality; major radial and cubital deformations were observed. Stainings of laminin β2 were performed on bone and renal samples from the patient and healthy controls: as expected, laminin β2 was expressed in the control kidney but not in the patient's renal tissue, and a similar pattern was observed in bone. Conclusion This is the first case of skeletal impairment ever described in Pierson syndrome. Integrin α3β1, receptor for laminin β2, are found in podocytes and osteoblasts, and the observation of both the presence of laminin β2 staining in healthy bone and its absence in the patient's bone raises the question of a potential role of laminin β2 in bone physiology.
Published: 2018
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33. Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome

Author: Amélie Ryckewaert, Nadine Jay, Aurélia Bertholet-Thomas, Gilles Morin, Georges Deschênes, Cyrielle Treard, Vincent Guigonis, Rémi Salomon, Denis Morin, Brigitte Llanas, Rosa Vargas-Poussou, Daniele Bruno, Stéphane Decramer, Djamal Djeddi, François Nobili, Anne Blanchard, Isabelle Vrillon, Tackwa Khalifeh, Christine Pietrement, Françoise Broux, Sophie Dreux, Isabelle Roncelin, Anne Legrand, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Toulouse [Toulouse], Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Service de pédiatrie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Investigation Clinique - Epidemiologie Clinique/essais Cliniques [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), and École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
Subjects: 0301 basic medicine, Proband, Male, Pediatrics, Epidemiology, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, 030232 urology & nephrology, Critical Care and Intensive Care Medicine, 0302 clinical medicine, Mutation Rate, Pregnancy, Prenatal Diagnosis, Prevalence, Missense mutation, Frameshift Mutation, X chromosome, Sequence Deletion, Sanger sequencing, education.field_of_study, Pregnancy Outcome, genetic renal disease, Adaptor Proteins, 3. Good health, Phenotype, Nephrology, Cohort, symbols, Female, France, Polyhydramnios, medicine.medical_specialty, X Chromosome, RNA Splicing, Population, Bartter syndrome, Frameshift mutation, 03 medical and health sciences, symbols.namesake, pediatric nephrology, Antigens, Neoplasm, medicine, Humans, Genetic Predisposition to Disease, Antigens, education, Adaptor Proteins, Signal Transducing, Retrospective Studies, Transplantation, business.industry, Signal Transducing, Bartter Syndrome, Original Articles, medicine.disease, 030104 developmental biology, Mutation, molecular genetics, Neoplasm, business
Abstract: International audience; BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The French cohort of patients with antenatal Bartter syndrome encompasses 171 families. Mutations in genes responsible for types 1-4 have been detected in 75% of cases. In patients without identified genetic cause (n=42), transient antenatal Bartter syndrome was reported in 12 cases. We analyzed the MAGED2 gene in the entire cohort of negative cases by Sanger sequencing and retrospectively collected clinical data regarding pregnancy as well as the postnatal outcome for positive cases. RESULTS: We detected mutations in MAGED2 in 17 patients, including the 12 with transient antenatal Bartter syndrome, from 16 families. Fifteen different mutations were detected (one whole deletion, three frameshift, three splicing, three nonsense, two inframe deletions, and three missense); 13 of these mutations had not been previously described. Interestingly, two patients are females; in one of these patients our data are consistent with selective inactivation of chromosome X explaining the severity. The phenotypic presentation in our patients was variable and less severe than that of the originally described cases. CONCLUSIONS: MAGED2 mutations explained 9% of cases of antenatal Bartter syndrome in a French cohort, and accounted for 38% of patients without other characterized mutations and for 44% of male probands of negative cases. Our study confirmed previously published data and showed that females can be affected. As a result, this gene must be included in the screening of the most severe clinical form of Bartter syndrome.
Published: 2018
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34. Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?

Author: Frédérique Dijoud, Aurélia Bertholet-Thomas, Franck Chotel, Caroline Silve, Marie-Christine Carlier, Justine Bacchetta, and Debora Claramunt-Taberner
Subjects: Fibroblast growth factor 23, Nephrology, medicine.medical_specialty, Heterozygote, Adolescent, DNA Mutational Analysis, 030232 urology & nephrology, 030209 endocrinology & metabolism, Compound heterozygosity, Sevelamer, Phosphates, 03 medical and health sciences, Hyperphosphatemia, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Diuretics, Chelating Agents, Nicotinamide, business.industry, Calcinosis, medicine.disease, Phosphate, Combined Modality Therapy, Magnetic Resonance Imaging, Hyperostosis, Cortical, Congenital, Fibroblast Growth Factors, Fibroblast Growth Factor-23, Endocrinology, Treatment Outcome, chemistry, Pediatrics, Perinatology and Child Health, Tumoral calcinosis, Buttocks, Female, business, medicine.drug
Abstract: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes encoding FGF23 or its regulators, and leading to functional deficiency or resistance to fibroblast growth factor 23 (FGF23). Subsequent biochemical features include hyperphosphatemia due to increased renal phosphate reabsorption, and increased or inappropriately normal 1,25-dihydroxyvitamin D (1,25-D) levels. A 15-year-old girl was referred for a 1.2-kg-calcified mass of the thigh, with hyperphosphatemia (2.8 mmol/L); vascular impairment and soft tissue calcifications were already present. DNA sequencing identified compound heterozygous mutations in the FGF23 gene. Management with phosphate dietary restriction, phosphate binders (sevelamer, aluminum, nicotinamide), and acetazolamide moderately decreased serum phosphate levels; oral ketoconazole was secondary administered, leading to significantly decreased 1,25-D levels albeit only moderate additionally decreased phosphate levels. However, therapeutic compliance was questionable. Serum phosphate levels always remained far above the upper normal limit for age. The patient presented with two relapses of the thigh mass, requiring further surgery. We suggest that control of phosphate metabolism is crucial to prevent recurrences and vascular complications in HFTC; however, the medical management remains challenging.
Published: 2017

35. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Author: Véronique Darmency, Sharon Whiting, Laurence Faivre, Jean-François Deleuze, Daniel H. Lowenstein, Julien Thevenon, Rebecca Hernan, Matthew A. Lines, Orly Elpeleg, Yannis Duffourd, Corinne Antignac, Mirna Assoum, Erin L. Heinzen, Martine Lemesle, Christel Thauvin-Robinet, Aurélie Bertholet-Thomas, Wendy K. Chung, Orrin Devinsky, Eric B. Geller, Vincent des Portes, Alexandre Belot, Simon Edvardson, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Children's Hospital of Eastern Ontario, Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center [Jerusalem], Service de Neurophysiologie Clinique (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), New York University School of Medicine (NYU), New York University School of Medicine, NYU System (NYU)-NYU System (NYU), Columbia University Medical Center (CUMC), Columbia University [New York], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Necker - Enfants Malades [AP-HP], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut des Sciences cognitives Marc Jeannerod - Laboratoire sur le langage, le cerveau et la cognition (L2C2), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie - UMR (CIRI), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, FHU TRANSLAD, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), University of California [San Francisco] (UCSF), University of California, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Centre International de Recherche en Infectiologie (CIRI), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), FHU TRANSLAD (CHU de Dijon), University of California [San Francisco] (UC San Francisco), University of California (UC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL)
Subjects: 0301 basic medicine, Male, Adolescent, Nerve Tissue Proteins, Bioinformatics, whole exome sequencing, 03 medical and health sciences, Epilepsy, Tripartite Motif, Genetics, medicine, Humans, TRIM8, Amino Acid Sequence, Child, Gene, Genetics (clinical), De novo mutations, Exome sequencing, business.industry, nephrotic syndrome, Epileptic encephalopathy, Infant, Newborn, Infant, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, epileptic encephalopathy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Mutation, Female, business, Carrier Proteins, Nephrotic syndrome
Abstract: IF 2.264; International audience; De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not sufficient to conclude that TRIM8 was a novel gene responsible for EE. Here we report four additional patients presenting with EE and de novo truncating mutations of TRIM8 detected by WES, and give further details of the patient previously reported by the Epi4K consortium. Epilepsy of variable severity was diagnosed in children aged 2 months to 3.5 years of age. All patients had developmental delay of variable severity with no or very limited language, often associated with behavioral anomalies and unspecific facial features or MRI brain abnormalities. The phenotypic variability observed in these patients appeared related to the severity of the epilepsy. One patient presented pharmacoresistant EE with regression, recurrent infections and nephrotic syndrome, compatible with the brain and kidney expression of TRIM8. Interestingly, all mutations were located at the highly conserved C-terminus section of TRIM8. This collaborative study confirms that TRIM8 is a novel gene responsible for EE, possibly associated with nephrotic syndrome. This report brings new evidence on the pathogenicity of TRIM8 mutations and highlights the value of data-sharing to delineate the phenotypic characteristics and biological basis of extremely rare disorders.
Published: 2017
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36. Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Author: Maria Mileva, Sandrine Lemoine, Christiane Mousson, Elsa Seys, Rosa Vargas-Poussou, Mathilde Cailliez, Gwenaëlle Roussey-Kesler, Aurélia Bertholet-Thomas, Paul Cozette, Theresa Kwon, Anne Blanchard, Guylhène Bourdat-Michel, Pauline Krug, Jean Sébastien Borde, Jacques Teulon, Christophe Simian, Laurence Dubourg, Robert Novo, Isabelle Vrillon, Bertrand Knebelmann, Brigitte Llanas, Djamal Djeddi, Dominique Chaveau, Stephen B. Walsh, Olga Andrini, François Nobili, Jean Daniel Delbet, Marc Fila, Georges Deschênes, Mathilde Keck, Ferielle Louillet, Lamisse Mansour-Hendili, Elodie Merieau, Stéphane Decramer, Noémie Jourde-Chiche, Marie-Pierre Lavocat, Pierre-Yves Courand, Luisa Mota-Vieira, Guillaume Bobrie, Pediatric Nephrology Unit, American Memorial Hospital, Reims University Hospital, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Paris Descartes - Paris 5 (UPD5)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service de Génétique [CHU HEGP], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre d'Investigation Clinique - Epidemiologie Clinique/essais Cliniques [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie [Hôpital Croix- Rousse, HCL] (Centre d'excellence de la Société européenne d'hypertension artérielle), Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique, Union nationale des coopératives d’élevage et d’insémination animale (UNCEIA), Unité de Néphrologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rénales Rares Néphrogones, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Nephrology Unit, Clinique du Vert Galant, Tremblay-en-France, Nephrology Unit, Centre hospitalier de Saintonge, Saintes, Centre Hospitalo-Universitaire de Grenoble (CHU de Grenoble), CHU Grenoble, Service de pédiatrie multidisciplinaire [Hôpital de la Timone Enfants - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Pediatric Nephrology Unit, Centre Hospitalier du Pays d'Aix, Nephrology Unit, Centre Hospitalier du Pays d'Aix, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Métabolomique et maladies métaboliques, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Vascular research center of Marseille (VRCM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Pédiatrie médicale et médecine de l'adolescent [Amiens], CHU Amiens-Picardie, Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Department of Pediatrics, Centre Hospitalier Pierre Oudot de Bourgoin-Jallieu, Bourgoin-Jallieu, Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo of Ponta Delgada, Service de néphrologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de néphrologie pédiatrique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Aeronautical and Automotive Engineering, Loughborough University, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Santé Lyon Est - Louis Léopold Ollier, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Union Nationale des Coopératives Agricoles d'Elevage et d'Insémination Animale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Unité d'hypertension artérielle, Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Service de nephrologie pédiatrique, Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Université de Paris - Faculté de Médecine Paris Centre (UP Médecine Paris Centre), Université de Paris (UP), Service de Génétique [AP-HP Hôpital Européen Georges Pompidou, Paris], Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Grenoble (CHU de Grenoble), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Centre de néphrologie et transplantation rénale [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Service de pédiatrie néonatale et réanimation - neuropédiatrie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Lyon, Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Charles Nicolle [Rouen], and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Nonsense mutation, 030232 urology & nephrology, Bartter syndrome, urologic and male genital diseases, Hypocalciuria, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Tubulopathy, Clinical Research, Internal medicine, Genotype, medicine, Humans, Child, Genetic Association Studies, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, CLCNKB, biology, business.industry, Bartter Syndrome, Infant, General Medicine, Gitelman syndrome, medicine.disease, 3. Good health, Bartter's syndrome, 030104 developmental biology, Endocrinology, Nephrology, Child, Preschool, Mutation, biology.protein, Female, medicine.symptom, business
Abstract: Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed in vitro decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1-41) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes.
Published: 2017
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37. Fludrocortisone as a new tool for managing tubulopathy after pediatric renal transplantation: a series of cases

Author: Aurélia Bertholet-Thomas, Pierre Cochat, Anne-Laure Leclerc, Justine Bacchetta, Bruno Ranchin, and Odile Basmaison
Subjects: Male, Nephrology, medicine.medical_specialty, Adolescent, Fludrocortisone, Anti-Inflammatory Agents, Urology, chemistry.chemical_compound, Tubulopathy, Internal medicine, medicine, Humans, Child, Intensive care medicine, Kidney transplantation, Retrospective Studies, Sodium bicarbonate, business.industry, medicine.disease, Kidney Transplantation, Hypokalemia, Transplantation, Kidney Tubules, Blood pressure, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Kidney Diseases, medicine.symptom, business, medicine.drug
Abstract: The management of tubulopathies after renal transplantation (RTx) may require high doses of sodium and bicarbonate, reducing the quality of life and therapeutic compliance of the patient. Some studies on adult patients have highlighted the benefits of fludrocortisone (fludro) in the treatment of severe tubulopathies. This study was a retrospective review of the medical charts of 15 children, aged 12.4 (range 3.6–17.4) years who received fludro after RTx. With the administration of fludro, both sodium bicarbonate and chloride supplementation decreased, from 10 (range 0–14) to 0 (0–5) g/day, and from 9 (0–20) to 0 (0–3) g/day, respectively (both p
Published: 2014
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38. DIALYSIS. PATHOPHYSIOLOGY AND CLINICAL STUDIES

Author: J. K. Humalda, S. Assa, G. J. Navis, C. F. M. Franssen, M. H. De Borst, H. Ogawa, Y. Ota, T. Watanabe, Y. Watanabe, H. Nishii, A. Sato, J. Waniewski, M. Debowska, A. Wojcik-Zaluska, A. Ksiazek, W. Zaluska, C. M. Guastoni, C. Turri, L. Toma, G. Rombola, G. Frattini, G. Romei Longhena, U. Teatini, D.-C. Siriopol, S. Stuard, A. Ciolan, G. Mircescu, D. Raluca, I. Nistor, A. Covic, C. L. De Roij Van Zuijdewijn, I. Chapdelaine, M. J. Nube, P. J. Blankestijn, M. L. Bots, S. J. Konings, M. A. Van Den Dorpel, N. C. Van Der Weerd, P. M. Ter Wee, M. P. Grooteman, P. S. Djuric, A. Jankovic, J. Tosic, S. Bajcetic, T. Damjanovic, J. Popovic, N. Dimkovic, J. Marinkovic, Z. Djuric, V. Knezevic, T. Lazarevic, S. Ljubenovic, R. Markovic, V. Rabrenovic, L. Djukanovic, V. Radovic Maslarevic, V. Mathrani, P. Drew, J. I. Chess, A. I. Williams, S. Robertson, M. Jibani, V. I. Aithal, M. Kumwenda, G. Roberts, A. I. Mikhail, A. E. Grzegorzewska, G. Ostromecki, A. Mostowska, A. Sowi ska, P. P. Jagodzi ski, H.-Y. Wu, H.-Y. Chen, S.-P. Hsu, M.-F. Pai, J.-Y. Yang, Y.-S. Peng, M. Hirose, T. Hasegawa, N. Kaneshima, F. Sasai, D. Komukai, K. Takahashi, F. Koiwa, K. Shishido, A. Yoshimura, G. Selim, O. Stojceva-Taneva, L. Tozija, P. Dzekova-Vidimliski, L. Trajceska, Z. Petronievic, S. Gelev, V. Amitov, A. Sikole, S. J. Moon, S. Y. Yoon, D. H. Shin, J. E. Lee, H.-J. Kim, H.-C. Park, D. Hadjiyannakos, V. Filiopoulos, G. Loukas, S. Pagonis, C. Andriopoulos, A. Drakou, D. Vlassopoulos, C. Catarino, P. Cunha, S. Ribeiro, P. Rocha-Pereira, F. Reis, M. Sameiro-Faria, V. Miranda, E. Bronze-Rocha, L. Belo, E. Costa, A. Santos-Silva, A. De Mauri, M. Brambilla, D. Chiarinotti, D. Lizio, R. Matheoud, N. Conti, M. M. Conte, A. Carriero, M. De Leo, A. V. Karpetas, P. A. Sarafidis, P. I. Georgianos, G. Koutroumpas, D. Divanis, P. Vakianis, G. Tzanis, K. Raptopoulou, A. Protogerou, D. Stamatiadis, C. Syrganis, V. Liakopoulos, G. Efstratiadis, A. N. Lasaridis, M. Tersi, D. N. Stamatiadis, P. Kuczera, M. Adamczak, A. Wiecek, S. Bove, B. Giacon, R. Corradini, E. Prati, M. Brognoli, A. Tommasi, L. Sereni, G. Palladino, H. Moriya, Y. Mochida, K. Ishioka, M. Oka, K. Maesato, S. Hidaka, T. Ohtake, S. Kobayashi, A. Moura, J. Madureira, P. Alija, J. C. Fernandes, J. G. Oliveira, M. Lopez, M. Filgueiras, L. Amado, M. Vieira, J.-H. Seok, H. Y. Choi, S. K. Ha, H. C. Park, M. Bossola, A. Laudisio, M. Antocicco, L. Tazza, G. Colloca, M. Tosato, G. Zuccala, E. M. Ettema, J. Kuipers, H. Groen, R. T. Gansevoort, K. Stade, S. J. L. Bakker, C. A. J. M. Gaillard, R. Westerhuis, J. Bacchetta, K. Couchoud, S. Semlali, A.-L. Sellier-Leclerc, A. Bertholet-Thomas, R. Cartier, P. Cochat, B. Ranchin, J. C. Kim, K. Park, C. Van Ende, D. Wilmes, F. E. Lecouvet, L. Labriola, R. Cuvelier, G. Van Ingelgem, M. Jadoul, C. Doriana, P. David, F. Capurro, M. Brustia, C. E. Ruva, S. Giungi, E. Di Stasio, S. Lemesch, B. Leber, A. Horvath, W. Ribitsch, G. Schilcher, G. Zettel, M. Tawdrous, A. R. Rosenkranz, V. Stadlbauer-Kollner, H. Matsushima, A. Oyama, E. Bosch Benitez-Parodi, E. Baamonde Laborda, F. Batista Garcia, G. Perez Suarez, G. Anton Perez, C. Garcia Canton, A. Toledo Gonzalez, M. M. Lago Alonso, M. D. Checa Andres, G. Cobo, C. Di Gioia, R. Camacho, C. Garcia Lacalle, O. Ortega, I. Rodriguez, J. Herrero, A. Oliet, M. Ortiz, C. Mon, A. Vigil, P. Gallar, V. Pellu, P. E. Nebiolo, K. Sasaki, S. Yamguchi, A. Hesaka, E. Iwahashi, S. Sakai, T. Fujimoto, S. Minami, Y. Fujita, K. Yokoyama, E. Shutov, G. Ryabinskya, S. Lashutin, E. Gorelova, E. Volodicheva, M. A. Podesta, G. Cancarini, D. Cucchiari, A. Montanelli, S. Badalamenti, G. Graziani, E. Distasio, I. Pchelin, A. Shishkin, Y. Fedorova, C.-C. Kao, T.-S. Chu, T.-J. Tsai, K.-D. Wu, M.-S. Wu, V. Raikou, P. Kaisidis, E. Tsamparlis, P. Kanellopoulos, J. Boletis, A. Ueda, A. Hirayama, S. Owada, K. Nagai, C. Saito, and K. Yamagata
Subjects: 03 medical and health sciences, Transplantation, medicine.medical_specialty, 0302 clinical medicine, Nephrology, business.industry, 030232 urology & nephrology, medicine, 030204 cardiovascular system & hematology, Intensive care medicine, Dialysis (biochemistry), business, Pathophysiology
Published: 2014
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39. Une nouvelle étiologie dans la lithiase calcique récidivante : la mutation hétérozygote du gène de la 24 hydroxylase

Author: N. Abid, Lionel Badet, A. Molin, Laurence Dubourg, A. Bertholet-Thomas, Laurent Juillard, J Bacchetta, S. Lemoine, and G. Normand
Subjects: business.industry, Urology, Medicine, business, Molecular biology
Abstract: Objectifs L’hypercalciurie est une cause frequente de calculs renaux. Des mutations perte de fonction biallelique de cyp24a1, gene codant pour la vitamine d 24-hydroxylase, et identifiees dans des formes d’hypercalcemie idiopathie neonatale, ont ete egalement identifiees chez des patients avec lithiase renale et/ou nephrocalcinose. Decouverte d’hypercalciurie chez des patients lithiasiques avec mutation heterozygote de la cyp24a1, theoriquement non symptomatiques. Methodes Trois patients, (âge 32 ± 8 ans), ont consulte pour maladie lithiasique active. Les calculs etaient constitues de weddellite ou de brushite. Le bilan phosphocalcique montrait : calcemie normale a 2,34 ± 0,06 mmol/L, pth a 41 ± 13 ng/L (normes 15–65) ; 25-oh vit d a 76 ± 7 nmol/L et 1,25-(oh)2 vit d a 225 ± 98 pmol/L. La calciurie moyenne etait de 5,33 mmol/24 h, soit 0,09 ± 0,01 mmol/kg/j. La consommation sodee et proteique etait normale. Une charge calcique a ete realisee devant l’activite lithiasique importante et/ou l’hypercalciurie avec une absence d’hypercalciurie resorptive et une hypercalciurie absorptive (delta ca/creat a 0,73 n Resultats L’association d’une 1,25-(oh)2 vit d elevee, d’une hypercalcemie a h2 et h4 de la charge calcique avec une pth freinee a motive la recherche de mutation de la 24-hydroxylase. Il a ete identifie une mutation a l’etat heterozygote chez ces 3 patients (c.1124c > t/p.(pro375leu), c1226t > c/p.(leu409ser) et c.1348t > a/p.(phe450ile). Il serait interessant de doser la 24-25ohd2 chez ces patients ( Tableau 1 ). Conclusion Les mutations heterozygotes de cyp24a1 peuvent etre identifiees chez des patients lithiasiques hypercalciuriques avec une 1,25-(oh)2 vit d elevee. Une charge calcique avec hypercalciurie absorptive et freination majeure de la pth peut orienter la recherche d’une mutation de cyp24a1.
Published: 2018
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40. Hémodiafiltration online et hypoparathyroïdie chez l’enfant : une série de cas monocentrique

Author: Aurélia Bertholet-Thomas, Alexandre Belot, Justine Bacchetta, Thomas Pérouse de Montclos, Pierre Cochat, Bruno Ranchin, and Anne-Laure Leclerc
Subjects: Gynecology, Single centre, medicine.medical_specialty, Nephrology, business.industry, Medicine, Online hemodiafiltration, business
Abstract: Resume Introduction L’hemodiafiltration (HDF) est encore peu utilisee en pediatrie en raison des exigences techniques, de son cout et des adaptations rendues necessaires par les differences de poids et de taille des enfants. Depuis 2009, nous utilisons l’HDF online (oHDF) et avons observe des concentrations plasmatiques basses d’hormone parathyroidienne (PTH) malgre une gestion des anomalies minerales et osseuses suivant les recommandations internationales. Methodes Les dossiers de 6 enfants suivis en oHDF dans notre centre ont ete repris retrospectivement, avec une evaluation prospective de leurs principaux parametres phosphocalciques sur un mode avant/apres session. Resultats Nous avons observe des concentrations basses de PTH ( Conclusion Il semble que l’oHDF en pediatrie puisse induire des modifications phosphocalciques specifiques, que des essais cliniques en cross-over hemodialyse conventionnelle/oHDF pourraient permettre de mieux comprendre. En attendant, l’utilisation en premiere intention des bains a 1,25 mmol/L de calcium, de meme qu’un suivi regulier de la PTH semblent necessaires.
Published: 2014
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41. Long-term outcome of children treated with rituximab for idiopathic nephrotic syndrome

Author: Stéphanie Tellier, Stéphane Decramer, Arnaud Garnier, Brigitte Llanas, Aurélia Bertholet-Thomas, Sylvie Nathanson, Flavio Bandin, Mathilde Cailliez, Vincent Guigonis, Christine Pietrement, Olivier Dunand, L. Ichay, and Karine Brochard
Subjects: Male, Nephrology, medicine.medical_specialty, Pediatrics, Nephrotic Syndrome, Time Factors, Idiopathic Nephrotic Syndrome, Antibodies, Monoclonal, Murine-Derived, immune system diseases, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Immunologic Factors, Child, Retrospective Studies, business.industry, Infant, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Rituximab, business, medicine.drug
Abstract: Rituximab (RTX) has recently showed promising results in the treatment of steroid-dependent idiopathic nephrotic syndrome (SDNS).This was a retrospective multicenter study of 18 children treated with RTX for SDNS, with a mean follow-up of 3.2 years. RTX was introduced because of side effects or relapses during therapy with immunosuppressive agents. The children received one to four infusions of RTX during the first course of treatment, and subsequent infusions were given due to CD19-cell recovery (CD19 1 %; 54 % of children) or relapse (41 %), as well as systematically (5 %).Treatment with RTX maintained sustained remission without relapse in 22 % of patients and increased the duration of remission in all other patients. The time between two successive relapses was 9 months in the absence of re-treatment and 24.5 months when infusions were performed at the time of CD19-cell recovery. At the last follow-up, 44.5 % of patients were free of oral drug therapy. Of those still receiving oral drugs, all doses had been decreased. No serious adverse events occurred.The results of this retrospective study confirm the efficacy and very good safety of RTX in the treatment of SDNS. The optimal therapeutic protocol seems to be a repeated single infusion at the time of CD19-cell recovery.
Published: 2013
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42. Skeletal implications and management of cystinosis: three case reports and literature review

Author: Justine Bacchetta, Georges Boivin, Marcella Greco, Jozef Zustin, Pierre Cochat, Aurélia Bertholet-Thomas, Francesco Emma, and François Nobili
Subjects: 0301 basic medicine, Bone disease, business.industry, 030232 urology & nephrology, Dentistry, Review Article, Bioinformatics, medicine.disease, Bone remodeling, 03 medical and health sciences, chemistry.chemical_compound, Hypophosphatemic Rickets, 030104 developmental biology, 0302 clinical medicine, chemistry, Cystinosin, Nephropathic Cystinosis, Cystinosis, Lysosomal storage disease, medicine, General Earth and Planetary Sciences, Cysteamine, business, General Environmental Science
Abstract: Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism. In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with renal failure, but causes severe osteopenia and growth retardation, thus raising the hypothesis of a specific underlying bone defect in cystinosis. Moreover, the in vitro ability of mesenchymal stromal cells isolated from bone marrow to differentiate along the osteoblastic lineage is reduced in patients with cystinosis as compared with cells obtained from healthy controls, this cellular abnormality being reverted after cysteamine treatment. From our experience of three pediatric patients with cystinosis and severe bone deformations having undergone a thorough biochemical evaluation, as well as a bone biopsy, we conclude that even though copper deficiency, high-doses cysteamine regimens and abnormal thyroid metabolism may worsen the bone picture in cystinosis patients, the exact pathophysiology of such impairment remains to be defined. The role of chronic hypoparathyroidism due to chronic phosphate wasting could also be discussed. In the future, larger and prospective studies should focus on this topic because of the potential major impact on patients' quality of life.
Published: 2016

43. Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Author: Julien Berthiller, Gabrielle Weiler, Behrouz Kassai, Georges Deschênes, Michel Fischbach, Bassam Saeed, Pierre Cochat, Jochen H. H. Ehrich, Sally A. Hulton, Aurélia Bertholet-Thomas, Marcella Greco, Rejane De Paula Bernardes, Bülent Hacihamdioglu, Velibor Tasic, Ehsan Valavi, Hasan Otukesh, Carlos Jose Cobenas, Justine Bacchetta, Kenza Soulami, Centre de référence des maladies rénales rares Néphrogones [CHU-HCL, Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Pôle Information Médicale Evaluation Recherche (IMER), Hospices Civils de Lyon (HCL), Epidémiologie, Pharmacologie, Investigation Clinique, Information médicale, Mère-Enfant (EPICIME), Parcours santé systémique (P2S), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, University Children’s Hospital [Skopje, Macédoine], Ali Asghar Children Hospital [Téhéran, Iran], Division of Nephrology and Dialysis [Rome, Italie], Children's Hospital Bambino Gesù [Rome, Italie], Children's Hospital [Hanovre, Allemagne], Hannover Medical School [Hannover] (MHH), Clinica Nefrokids [Curitiba, Brésil], Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Birmingham Children’s Hospital, Service de Néphrologie pédiatrique [Hôpital de Hautepierre, Strasbourg], CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Cabinet de Néphrologie pédiatrique [Casablanca, Maroc], Kidney Hospital [Damas, Syrie], Service de Néphrologie [Ahvaz, Iran], Ahvaz Jundishapur University of Medical Sciences (AJUMS), Hospital de Ninos Ludovica La plata [La plata, Argentine], Service de Pédiatrie [Gülhane, Turquie], Gülhane Military Medical Academy [Gülhane, Turquie], Service de Néphrologie [Ottawa, Canada], Children's Hospital of Eastern Ontario [Ottawa, Canada], and Bodescot, Myriam
Subjects: Nephrology, Adult, Male, medicine.medical_specialty, Internationality, Adolescent, medicine.medical_treatment, Cysteamine, Cystinosis, 030232 urology & nephrology, 030204 cardiovascular system & hematology, lcsh:RC870-923, Global Health, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Nephropathic cystinosis, Developing nations, Peritoneal dialysis, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Nephropathic Cystinosis, Internal medicine, Physicians, Surveys and Questionnaires, medicine, Humans, Child, Developing Countries, Dialysis, Retrospective Studies, business.industry, Metabolic disorder, Infant, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Comorbidity, Transplantation, Child, Preschool, Kidney Failure, Chronic, Female, business, Follow-Up Studies, Research Article
Abstract: Background Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. Methods A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. Results A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5−/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. Conclusions Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources. Electronic supplementary material The online version of this article (doi:10.1186/s12882-017-0633-3) contains supplementary material, which is available to authorized users.
Published: 2016
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44. Long-term critical issues in pediatric renal transplant recipients: a single-center experience

Author: Raymonde Bouvier, Odile Basmaison, Pierre Cochat, D. Floret, Jérôme Harambat, Delphine Demede, Bruno Ranchin, Aurélia Bertholet-Thomas, Xavier Martin, Laurence Dubourg, Lionel Badet, Guillaume Mestrallet, and Justine Bacchetta
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Summary data, Single Center, Malignancy, Living Donors, Humans, Medicine, Renal Insufficiency, Child, education, Proportional Hazards Models, Retrospective Studies, Transplantation, education.field_of_study, Models, Statistical, business.industry, Proportional hazards model, Graft Survival, Patient survival, medicine.disease, Kidney Transplantation, Treatment Outcome, Renal transplant, Child, Preschool, Female, business, Immunosuppressive Agents
Abstract: Summary Data on long-term outcomes after pediatric renal transplantation (Tx) are still limited. We report on a 20-year single-center experience. Medical charts of all consecutive pediatric Tx performed between 1987 and 2007 were reviewed. Data of patients who had been transferred to adult units were extracted from the French databases of renal replacement therapies. Outcomes were assessed using Kaplan–Meier and Cox models. Two hundred forty Tx were performed in 219 children (24.1% pre-emptive and 17.5% living related donor Tx). Median age at Tx was 11.1 years and median follow-up was 10.4 years. Patient survival was 94%, 92%, and 91% at 5, 10, and 15 years post-Tx, respectively. Overall, transplant survival was 92%, 82%, 72%, and 59% at 1, 5, 10, and 15 years post-Tx, respectively. The expected death-censored graft half-life was 20 years. Sixteen patients developed malignancies during follow-up. Median height at 18 years of age was 166 cm in boys and 152 cm in girls with 68% of patients being in the normal range. The proportion of socially disadvantaged young people was higher than in general population. Excellent long-term outcomes can be achieved in pediatric renal Tx, but specific problems such as malignancies, growth, and social outcome remain challenging.
Published: 2012
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45. French cohort of transient antenatal Bartter syndrome with MAGED2 mutations

Author: François Nobili, Djamal Djeddi, Aurélia Bertholet-Thomas, A. Ryckewaert, Stéphane Decramer, L de Parscau, Brigitte Llanas, C. Treard, Christine Pietrement, T. Khalifeh, R. Vargas-Poussou, Denis Morin, G. Morin, Anne Legrand, and Laurence Dubourg
Subjects: Polyhydramnios, CLCNKB, Pregnancy, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, biology, business.industry, Gestational age, medicine.disease, Bartter syndrome, Polyuria, Pediatrics, Perinatology and Child Health, Amniocentesis, biology.protein, Medicine, Gestation, medicine.symptom, business
Abstract: Background MAGED2 was recently identified in an X-linked severe and transient form of antenatal Bartter's syndrome associated with polyhydramnios and prematurity but also in idiopathic polyhydramnios in the male offspring. An inappropriate expression of the sodium-chloride transporters NKCC2 and NCC is disclosed. Methods MAGED2 was screened by Sanger Sequencing in a series of 35 cases with transient or antenatal Bartter's syndrome and no pathogenic variant in SLC12A1, KCNJ1, CLCNKB and BSND genes. Results We found 15 cases from 14 families harboring MAGED2 variants including four nonsense, three miss sense, two frame shift and two splice-site variants; two small in frame deletions and one complete deletion of MAGED2 gene. Only one variant was previously reported, p.Arg446Cys. Severe polyhydramnios occurred in all pregnancies, at 18 to 25 weeks of gestation requiring serial amniocentesis (one to ten, when data available). In four cases, polyhydramnios was present in previous or later pregnancies. One pregnancy resulted in medical termination of pregnancy. All the infants (14) were born pre-term with gestational age at delivery between 26 and 36 weeks. All presented a Bartter's syndrome with severe polyuria (median diuresis was 13 mL/kg/h). Surprisingly, two cases were females. The severity of their phenotype and the course of the disease were comparable to those for male. The medical follow-up of 12 patients revealed that the salt and water losses resolved between 2 and 18 months with the end of indomethacin treatment or water and salts supplements. Two cases, with associated neurological disorders died at 1 and 12 months. Conclusion We confirmed with our French series of 15 MAGED2 cases the phenotypic presentation of this transient antenatal Bartter's syndrome. This new syndrome has to be considered in the differential diagnosis of Bartter's syndrome with the screening of MAGED2 as part of the molecular diagnosis.
Published: 2017
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46. Syndrome hémolytique et urémique post-diarrhéique : Quand y penser ? Quel suivi ?

Author: Yves Gillet, Justine Bacchetta, Alexandre Belot, Sophie Collardeau-Frachon, L. A. King, Pierre Cochat, Aurélia Bertholet-Thomas, and Bruno Ranchin
Subjects: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Follow up studies, business
Abstract: Resume Le syndrome hemolytique et uremique (SHU) est une maladie de l’endothelium vasculaire, definie par une triade associant une anemie hemolytique avec presence de schizocytes, une thrombopenie et une insuffisance renale aigue. La majorite des cas est associee a une infection a Escherichia coli producteur de verotoxines ou shigatoxines. La contamination peut se faire par voie alimentaire, contact interhumain ou contact avec des ruminants contamines. Apres avoir penetre dans les cellules endotheliales, ces shigatoxines induisent un effet cytotoxique responsable d’une apoptose et d’une reponse pro-inflammatoire. Depuis 1996, l’Institut de veille sanitaire collige les cas diagnostiques chez des patients de moins de 15 ans pris en charge dans les services de nephrologie pediatrique d’un reseau de surveillance volontaire en France metropolitaine et declenche des investigations exploratoires devant des cas groupes. L’incidence annuelle, en France, varie entre 0,6 et un pour 100 000 enfants de moins de 15 ans avec un pic a l’âge d’un an. Cinquante et un pour cent des SHU surviennent entre juin et septembre. La prise en charge est symptomatique avec recours a une epuration extrarenale dans 46 % des cas en 2009 ; la dialyse peritoneale doit etre privilegiee. Les complications neurologiques representent l’atteinte extrarenale la plus frequente et la premiere cause de deces ; la realisation precoce de plasmapherese pourrait ameliorer le pronostic. La mortalite varie de 1 a 5 %. Un tiers des patients presente des sequelles renales : proteinurie, hypertension arterielle et baisse de la filtration glomerulaire. Le risque de sequelles est d’autant plus important que la duree de l’anurie a ete longue. Tout patient ayant presente un SHU doit etre soumis a une surveillance a vie.
Published: 2011
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47. Consideration of the switch from twice-daily to once-daily tacrolimus in pediatric kidney transplant in daily clinical practice: Pharmacokinetic parameters, patient satisfaction and medical practices

Author: Arnaud Garnier, Emma Allain-Launay, Elodie Meriau, Gwenaëlle Roussey-Kesler, Anne Maisin, Aurélia Bertholet-Thomas, Caroline Favennec, Elise Launay, and Arnaud Le Grand
Subjects: Male, medicine.medical_specialty, Adolescent, Kidney transplant, Drug Administration Schedule, Tacrolimus, Patient satisfaction, Pharmacokinetics, Surveys and Questionnaires, medicine, Humans, Child, Intensive care medicine, Retrospective Studies, Transplantation, business.industry, Infant, Kidney Transplantation, Clinical Practice, Treatment Outcome, Patient Satisfaction, Child, Preschool, Pediatrics, Perinatology and Child Health, Kidney Failure, Chronic, Female, Once daily, business, Immunosuppressive Agents
Published: 2014
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48. FP001REDUCTION OF THE NUMBER OF DAILY INTAKES AND IMPROVED BLOOD BICARBONATE LEVELS IN DISTAL RENAL TUBULAR ACIDOSIS (DRTA) PATIENTS: INTEREST OF ADV7103, A NEW PROLONGED RELEASE FORMULATION

Author: Aurélia Bertholet-Thomas, Catherine Guittet, Luc André Granier, and María A. Manso
Subjects: Transplantation, medicine.medical_specialty, Distal renal tubular acidosis, Nephrology, Prolonged release, business.industry, Blood bicarbonate, Urology, Medicine, business, medicine.disease
Published: 2018
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49. Controversies and research agenda in nephropathic cystinosis: conclusions from a 'Kidney Disease: Improving Global Outcomes' (KDIGO) Controversies Conference

Author: Rezan Topaloglu, Monte Del Monte, Lambertus P. van den Heuvel, Thomas D. Brown, Victor Gomez, Marcella Greco, Galina Nesterova, Aude Servais, Mirian C. H. Janssen, Julian P. Midgley, Marjolein Bos, Patrick Niaudet, Jerry A. Schneider, William van’t Hoff, Paul Goodyer, Francesco Emma, Leticia Belmont-Martínez, Larry A. Greenbaum, Aurélia Bertholet-Thomas, Georges Deschênes, Maria Helena Vaisbich, Philip Newsholme, Doris A. Trauner, Jess G. Thoene, Patrice Rioux, Paul C. Grimm, Frederick J. Kaskel, Bruce A. Barshop, Graham Lipkin, Valerie Hotz, Oliver Amon, Christy Greeley, Neveen A. Soliman, Elena Levtchenko, Chris Ottolenghi, Maya Doyle, Jie Ding, Stephanie Cherqui, William A. Gahl, Minnie M. Sarwal, Maryan Basurto, Gema Ariceta, Katharina Hohenfellner, Elisabeth A.M. Cornelissen, Ranjan Dohil, Ewa Elenberg, Craig B. Langman, Teresa Holm, and Rita Magriço
Subjects: Adult, 0301 basic medicine, medicine.medical_specialty, Systemic disease, Pathology, Adolescent, Cysteamine, Cystinosis, 030232 urology & nephrology, Graft vs Host Disease, Disease, 03 medical and health sciences, chemistry.chemical_compound, Rare Diseases, 0302 clinical medicine, Renal Dialysis, Nephropathic Cystinosis, medicine, Humans, Genetic Testing, Child, Cystine Depleting Agents, Intensive care medicine, Immunosuppression Therapy, business.industry, Age Factors, Hematopoietic Stem Cell Transplantation, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetic Therapy, Congresses as Topic, Fanconi Syndrome, medicine.disease, Kidney Transplantation, Amino Acid Transport Systems, Neutral, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Cystinosin, chemistry, Nephrology, Mutation, Cystine, Kidney Failure, Chronic, Biomarker (medicine), Lysosomes, business, Kidney disease
Abstract: Item does not contain fulltext Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.
Published: 2016

50. Early-onset hypoparathyroidism and chronic keratitis revealing APECED

Author: E.H. Kemp, Aurélia Bertholet-Thomas, Anthony P. Weetman, Nicole Fabien, Michael Morris, Justine Bacchetta, Alexandre Belot, P. Cochat, Solange Milazzo, Ellia Mezgueldi, Department of Nephrology-Rheumatology-Dermatology Pediatric, Bron, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Amiens-Picardie, Synlab [Lausanne], Service d'immunologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), University of Sheffield [Sheffield], Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Pathology, medicine.medical_specialty, animal structures, hypocalcaemia, Case Reports, Disease, Keratitis, AIRE, medicine, Hypocalcaemia, Chronic mucocutaneous candidiasis, Adrenocortical Insufficiency, Past medical history, business.industry, Dystrophy, hypoparathyroidism, General Medicine, medicine.disease, Dermatology, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, 3. Good health, keratitis, Hypoparathyroidism, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.IMM]Life Sciences [q-bio]/Immunology, business, APECED
Abstract: International audience; Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in children who have hypoparathyroidism and chronic keratitis, with a past medical history showing a mild and transient Candida infection.
Published: 2015
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