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1. Social Deprivation Is Associated With Lower Access to Pre-emptive Kidney Transplantation and More Urgent-Start Dialysis in the Pediatric Population

Author

Bénédicte Driollet, Florian Bayer, Theresa Kwon, Saoussen Krid, Bruno Ranchin, Michel Tsimaratos, Cyrielle Parmentier, Robert Novo, Gwenaelle Roussey, Stéphanie Tellier, Marc Fila, Ariane Zaloszyc, Astrid Godron-Dubrasquet, Sylvie Cloarec, Isabelle Vrillon, Françoise Broux, Etienne Bérard, Sophie Taque, Christine Pietrement, François Nobili, Vincent Guigonis, Ludivine Launay, Cécile Couchoud, Jérôme Harambat, Karen Leffondré, 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), Agence de la biomédecine [Saint-Denis la Plaine], Hôpital Robert Debré, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Lille, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Strasbourg, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Rouen, Normandie Université (NU), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de Reims (CHU Reims), Service de pédiatrie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Limoges, Unité de recherche interdisciplinaire pour la prévention et le traitement des cancers (ANTICIPE), 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)-Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Bordeaux [Bordeaux], CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), and Admin, Oskar

Subjects
[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Nephrology, end stage kidney disease, French EDI, dialysis initiation, pediatric kidney replacement therapy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, social deprivation
Abstract

International audience; IntroductionSocioeconomic status (SES) is recognized as an important determinant of kidney health. We aimed to evaluate the association of social deprivation with different indicators at kidney replacement therapy (KRT) initiation in the French pediatric metropolitan population.MethodsAll patients with end-stage kidney disease (ESKD) who started KRT before 20 years old in France between 2002 and 2015 were included. We investigated different indicators at KRT initiation, which are as follows: KRT modality (dialysis vs. pre-emptive transplantation), late referral to a nephrologist, and dialysis modality (hemodialysis [HD] vs. peritoneal dialysis [PD], urgent vs. planned start of dialysis, use of catheter vs. use of fistula for HD vascular access). An ecological index (European Deprivation Index [EDI]) was used as a proxy for social deprivation.ResultsA total of 1115 patients were included (males 59%, median age at dialysis 14.4 years, glomerular/vascular diseases 36.8%). The most deprived group represented 38.7% of the patients, suggesting pediatric patients with ESKD come from a more socially deprived background. The most deprived group was more likely to initiate KRT with dialysis versus kidney transplantation. Among patients on HD, the odds of starting treatment in emergency with a catheter was >2-fold higher for the most deprived compared with the least deprived children (adjusted odds ratio [aOR] 2.35, 95% CI 1.16–4.78).ConclusionChildren from the most deprived area have lower access to pre-emptive transplantation, have lower access to PD, tend to be late referred to a nephrologist, and have more urgent initiation of HD with a catheter.

Published
2022
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2. Renal Prognosis in Children With Tubulointerstitial Nephritis and Uveitis Syndrome

Author

Corentin Tanne, François Nobili, Christine Pietrement, Emma Allain-Launay, Olivia Boyer, Claire Duflos, Annie Lahoche, Guylhène Bourdat-Michel, Sylvie Cloarec, Ariane Zaloszyc, Lise Allard, Agnès Chevalier, Djamal Djeddi, Tim Ulinski, Stéphane Decramer, Olivier Dunand, Julien Hogan, Justine Bacchetta, Marc Fila, Camille Faudeux, Stéphanie Clavé, Denis Morin, Isabelle Vrillon, Françoise Broux, Sophie Taque, Herrada, Anthony, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Rouen, Normandie Université (NU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), CHU Bordeaux [Bordeaux], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Grenoble, CHU Amiens-Picardie, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre Hospitalier Universitaire de Nice (CHU Nice), Service de pédiatrie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Pontchaillou [Rennes], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, Institut de Génomique Fonctionnelle (IGF), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Pediatrics, medicine.medical_specialty, Tubulointerstitial nephritis and uveitis, Renal function, tubulointerstitial nephritis and uveitis syndrome, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Asymptomatic, Dobrin’s syndrome, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, Clinical Research, medicine, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Retrospective cohort study, chronic kidney failure, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, pediatric, Nephrology, Dobrin's syndrome, Cohort, outcome, medicine.symptom, business, Uveitis, Kidney disease, Rare disease
Abstract

International audience; Introduction: Tubulointerstitial nephritis (TIN) and uveitis (TINU) syndrome is a rare disease. The renal prognosis is generally thought to be better in children with TINU syndrome than in adults. However, data are scarce. We aimed to investigate the long-term renal prognosis in a French cohort of children with TINU syndrome.Methods: We performed a national retrospective study including 23 French pediatric nephrology centers enrolling patients with TINU syndrome diagnosed between January 2000 and December 2018.Results: A total of 46 patients were included (52% female, median age 13.8 years). At diagnosis of TIN, the median estimated glomerular filtration rate (eGFR) was 30.6 ml/min per 1.73 m2 (4.9-62.8). The median time between diagnosis of uveitis and TIN was 0.4 months (-4.1; +17.1). All patients had anterior uveitis, but 12 (29%) were asymptomatic. Nearly all patients (44 of 46) received steroid treatment, and 12 patients (26%) received a second-line therapy. At last follow-up (median 2.8 years), the median eGFR was 87.5 ml/min per 1.73 m2 (60.3-152.7) and

Published
2021
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3. Transition et transfert de la néphrologie pédiatrique à la néphrologie adulte : recommandations de la filière maladies rénales rares ORKiD

Author

Robert Novo, Fitsum Guebre-Egziabher, Loïc De Parscau, Aurélia Bertholet-Thomas, Marie Essig, Gérard Champion, Aude Servais, Pierre Cochat, Jennifer Radenac, Anne-Laure Leclerc, Véronique Baudouin, Olivier Dunand, Nathalie Buebuyck, Béatrice Sartoris, Béatrice Langellier-Bellevue, Justine Perrin, Marina Charbit, Dominique Rousiot, Stéphane Burtey, Bruno Moulin, Françoise Broux, Sandrine Lemoine, Yahsou Delmas, Stéphanie Belaiche, Elodie Merieau, and Arvind Nagra

Subjects
03 medical and health sciences, 0302 clinical medicine, Nephrology, Political science, 030232 urology & nephrology, Humanities, Non adherence
Abstract

Resume Des recommandations specifiques a la nephrologie ont ete redigees sous l’egide de l’Association internationale de nephrologie pediatrique en 2011. Ces recommandations preconisent une transition individualisee, debutant entre 12 et 14 ans, avec des informations sur la maladie et les traitements du patient adaptees a l’âge et au niveau intellectuel. Les recommandations insistent sur l’importance d’identifier un referent pediatre et un referent en service adulte, ainsi qu’une equipe paramedicale et de travailleurs sociaux ; elles insistent egalement sur l’importance d’associer les aidants (les familles et l’entourage proche, etc.), la necessite d’un dossier specifique de transition et d’une visite prealable du service adulte avant le transfert. L’International Pediatric Nephrology Association recommande que le transfert soit realise au « bon moment » de la vie du jeune et non a ses 18 ans ; ce « bon moment » etant defini par le moment ou le jeune se sent pret, en periode de stabilite aussi bien medicale que familiale, scolaire et sociale. Afin de fournir au jeune des competences d’autogestion (empowerment) appropriees de sa maladie et de sa vie, dans le cadre de la filiere maladies renales rares (ORKiD), nous avons elabore un programme avec questionnaire adapte a l’âge en nous inspirant de celui mis en place a Southampton au Royaume-Uni. Ce document presente les outils developpes par le groupe de travail de la filiere de soins ORKiD.

Published
2021
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4. School level of children carrying a HNF1B variant or a deletion

Author

Annie Lahoche, Pierre Cochat, Cécile Saint-Martin, Isabelle Vrillon, Sylvie Cloarec, Philippe Eckart, Marie-Pierre Lavocat, Gwenaelle Roussey, Olivier Dunand, Brigitte Llanas, J. Tenenbaum, Vincent Guigonis, François Nobili, Nicolas Chassaing, Véronique Baudouin, Christine Bellanné-Chantelot, Laurence Heidet, Loïc De Parscau, Laurence Michel-Calemard, Christine Pietrement, Valérie Bonneville, Stéphane Decramer, Michel Tsimaratos, Fanny Lalieve, Claire Bahans, Nicolas Rodier, Françoise Broux, Vincent Morinière, and Lucie Bessenay

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Prenatal counseling, Population, Kidney, Article, Academic Performance, Genetics, medicine, Humans, In patient, School level, Child, education, Prospective cohort study, Genetics (clinical), Hepatocyte Nuclear Factor 1-beta, education.field_of_study, business.industry, Neuropsychology, Syndrome, HNF1B, Neurodevelopmental Disorders, Female, business, Gene Deletion, Neuropsychiatric disease
Abstract

The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development—based on school level—of 223 children included in this prospective cohort was studied. Data from 180 children were available for analysis. Patients mean age was 9.6 years, with 39.9% of girls. Among these patients, 119 carried a HNF1B deletion and 61 a disease-associated variant. In the school-aged population, 12.7 and 3.6% of patients carrying a HNF1B deletion and a disease-associated variant had special educational needs, respectively. Therefore, the presence of a HNF1B deletion increases the risk to present with a neuropsychiatric involvement when compared with the general population. On the other hand, almost 90% of patients carrying a HNF1B disease-associated variant or deletion have a normal schooling in a general educational environment. Even if these findings do not predict the risk of neuropsychiatric disease at adulthood, most patients diagnosed secondary to kidney anomalies do not show a neurological outcome severe enough to impede standard schooling at elementary school. These results should be taken into account in prenatal counseling.

Published
2019
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5. Efficacy and safety of intravenous immunoglobulin with rituximab versus rituximab alone in childhood-onset steroid-dependent and frequently relapsing nephrotic syndrome: protocol for a multicentre randomised controlled trial

Author

Julien Hogan, Lucie Bessenay, Sylvie Cloarec, Stéphanie Tellier, Annie Lahoche, Camille Faudeux, Françoise Broux, Aubriana Perez, Djamal Djeddi, Claire Dossier, Isabelle Vrillon, Christine Pietrement, François Nobili, Jérôme Harambat, Anne Jolivot, Emmanuelle Plaisier, Georges Deschênes, S. Guilmin-Crépon, Olivia Boyer, Vincent Audard, Tim Ulinski, Véronique Baudouin, Philippe Eckart, Denis Morin, Anne-Laure Sellier-Leclerc, Gwenaëlle Roussey-Kesler, Vincent Guigonis, Hôpital Robert Debré, 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 Henri Mondor, 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), and Université Sorbonne Paris Cité (USPC)

Subjects
Nephrology, Pediatrics, Nephrotic Syndrome, 030204 cardiovascular system & hematology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, LEHA, law.invention, 0302 clinical medicine, Superiority Trial, Randomized controlled trial, Quality of life, law, Recurrence, hemic and lymphatic diseases, Multicenter Studies as Topic, media_common, Randomized Controlled Trials as Topic, Renal Medicine, Immunoglobulins, Intravenous, Glomerulonephritis, General Medicine, 3. Good health, Treatment Outcome, Medicine, Rituximab, Steroids, medicine.drug, Drug, medicine.medical_specialty, media_common.quotation_subject, nephrology, 03 medical and health sciences, Internal medicine, medicine, Humans, 030203 arthritis & rheumatology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, paediatric nephrology, [SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapy, medicine.disease, Quality of Life, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neoplasm Recurrence, Local, business, Nephrotic syndrome, glomerulonephritis
Abstract

IntroductionGuidelines for the treatment of steroid-dependent nephrotic syndrome (SDNS) and frequently relapsing nephrotic syndrome (FRNS) are lacking. Given the substantial impact of SDNS/FRNS on quality of life, strategies aiming to provide long-term remission while minimising treatment side effects are needed. Several studies confirm that rituximab is effective in preventing early relapses in SDNS/FRNS; however, the long-term relapse rate remains high (~70% at 2 years). This trial will assess the association of intravenous immunoglobulins (IVIgs) to rituximab in patients with SDNS/FRNS and inform clinicians on whether IVIg’s immunomodulatory properties can alter the course of the disease and reduce the use of immunosuppressive drugs and their side effects.Methods and analysisWe conduct an open-label multicentre, randomised, parallel group in a 1:1 ratio, controlled, superiority trial to assess the safety and efficacy of a single infusion of rituximab followed by IVIg compared with rituximab alone in childhood-onset FRNS/SDNS. The primary outcome is the occurrence of first relapse within 24 months. Patients are allocated to receive either rituximab alone (375 mg/m²) or rituximab followed by IVIg, which includes an initial Ig dose of 2 g/kg, followed by 1.5 g/kg injections once a month for the following 5 months (maximum dose: 100 g).Ethics and disseminationThe study has been approved by the ethics committee (Comité de Protection des Personnes) of Ouest I and authorised by the French drug regulatory agency (Agence Nationale de Sécurité du Médicament et des Produits de Santé). Results of the primary study and the secondary aims will be disseminated through peer-reviewed publications.Trial registration numberNCT03560011.

Published
2020
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6. Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

Author

Annie Laquerrière, Bénédicte Sudrié-Arnaud, Raphaël Lanos, Laetitia Trestard, Ferielle Louillet, Sophie Coutant, Florent Marguet, Stéphane Marret, Abdellah Tebani, Sophie Patrier, Soumeya Bekri, Eric Verspyck, Myriam Vezain, Foudil Lamari, Pascal Chambon, Maria Fuller, Hélène Dranguet, Françoise Broux, Anne-Claire Brehin, Isabelle Tournier, Françoise Charbonnier, Jelena Martinovic, Laboratoire de biochimie générale [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Centre hospitalier universitaire de Rouen, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Normandie Université (NU), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-Université de Rouen Normandie (UNIROUEN), SA Pathology [Adelaide, SA, Australia], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique du Belvédère, Service de gynécologie et obstétrique [CHU Rouen], and Département de Pathologie [CHU Rouen]

Subjects
Adult, Polyhydramnios, 0301 basic medicine, Amniotic fluid, Clinical Biochemistry, Prenatal diagnosis, Genomics, Inborn errors of metabolism, Disease, 030105 genetics & heredity, Bioinformatics, Biochemistry, Inherited metabolic diseases, Young Adult, 03 medical and health sciences, Pregnancy, Hydrops fetalis, medicine, Humans, Non-immune hydrops fetalis, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Precision medicine, Biochemistry (medical), Computational Biology, Barth syndrome, Retrospective cohort study, Sequence Analysis, DNA, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, medicine.disease, 3. Good health, 030104 developmental biology, Next-generation sequencing, Female, business, Metabolism, Inborn Errors
Abstract

Purposes Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming. We have developed a next-generation sequencing (NGS) panel to investigate metabolic causes of NIHF, ascites, and polyhydramnios associated to another fetal abnormality. Methods The hydrops fetalis (HydFet) panel was designed to cover the coding regions and flanking intronic sequences of 41 genes. A retrospective study of amniotic fluid samples from 40 subjects was conducted. A prospective study was subsequently initiated, and six samples were analyzed using the NGS panel. Results Five IEM diagnoses were made using the HydFet panel (Niemann-Pick type C (NPC), Barth syndrome, HNF1Β deficiency, GM1 gangliosidosis, and Gaucher disease). This analysis also allowed the identification of 8p sequence triplication in an additional case. Conclusion NGS combined with robust bioinformatics analyses is a useful tool for identifying the causative variants of NIHF. Subsequent functional characterization of the protein encoded by the altered gene and morphological studies may confirm the diagnosis. This paradigm shift allows a significant improvement of IEM diagnosis in NIHF.

Published
2018
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7. Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment

Author

Annie Lahoche, Isabelle Vrillon, Julie Berbis, Françoise Broux, Gwenaelle Roussey, Sylvie Cloarec, Jérôme Harambat, Michel Tsimaratos, Olivier Dunand, Mohamed Boucekine, Rémi Salomon, Soraya Menouer, Stéphanie Clavé, Bruno Ranchin, Arnaud Garnier, Marc Fila, Pascal Auquier, Georges Deschênes, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Néphrologie Rhumatologie Dermatologie, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-HCL Groupement Hospitalier Est-Centre de référence Maladies Rénales Rares, 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), Service de Néphrologie, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Charles Nicolle [Rouen], Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, 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), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital de Hautepierre [Strasbourg], Service de néphrologie et pédiatrie générale [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), French national research program for clinical research (PHRC), HCL Groupement Hospitalier Est-Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de référence Maladies Rénales Rares, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Adult, Male, Parents, Quality of life, Gerontology, medicine.medical_specialty, Coping (psychology), Medical staff, Multivariate analysis, Adolescent, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Adolescents, lcsh:RC870-923, End stage renal disease, End-stage renal disease, 03 medical and health sciences, Leisure Activities, 0302 clinical medicine, Renal Dialysis, Internal medicine, Adaptation, Psychological, Health care, medicine, Humans, Prospective Studies, Renal Insufficiency, Chronic, Child, education, Bayesian models, Initiating haemodialysis, Coping strategies, education.field_of_study, business.industry, Middle Aged, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, 3. Good health, Nephrology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female, France, Self Report, business, Research Article, Kidney disease
Abstract

Background To describe the quality of life of adolescents initiating haemodialysis, to determine the factors associated with quality of life, and to assess coping strategies and their impact on quality of life. Methods All adolescents initiating haemodialysis between September 2013 and July 2015 in French paediatric haemodialysis centres were included. Quality of life data were collected using the “Vécu et Santé Perçue de l’Adolescent et l’Enfant” questionnaire, and coping data were collected using the Kidcope questionnaire. Adolescent’s quality of life was compared with age- and sex-matched French control. Results Thirty-two adolescents were included. Their mean age was 13.9 ± 2.0 years. The quality of life score was lowest in leisure activities and highest in relationships with medical staff. Compared with the French control, index, energy-vitality, relationships with friends, leisure activities and physical well-being scores were significantly lower in haemodialysis population. In multivariate analyses, active coping was positively associated with quality of life and especially with energy-vitality, relationships with parents and teachers, and school performance. In contrast, avoidant and negative coping were negatively associated with energy-vitality, psychological well-being and body image for avoidant coping, and body image and relationships with medical staff for negative coping. Conclusions The quality of life of haemodialysis adolescents, and mainly the dimensions of leisure activities, physical well-being, relationships with friends and energy-vitality, were significantly altered compared to that of the French population. The impact of coping strategies on quality of life seems to be important. Given the importance of quality of life and coping strategies in adolescents with chronic disease, health care professionals should integrate these aspects into care management.

Published
2019
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8. Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

Author

Jean-Philippe Haymann, Delphine Vezzosi, Elisabeth Requeda, Agnès Linglart, Guy Lefort, Jean-Claude Souberbielle, Emmanuelle Dubosclard, Bernadette Lucas-Pouliquen, Jean-Marc Kuhn, Françoise Broux, Pascal Houillier, Lamisse Mansour-Hendili, Michel Polak, Sophie Ouzounian, Stéphanie Baron, Xavier Jeunemaitre, Christophe Simian, Sonia Beltran, Caroline Travers, Gérard Maruani, Xavier Debussche, Caroline Silve, Jean-Philippe Bertocchio, Catherine Cormier, Cyrielle Treard, Odile Camard, Celine Eid, Dominique Robier, Marie-Alice Macher, Sylvie Cloarec, Ivan Tack, Véronique Baudouin, Rosa Vargas-Poussou, and Soto Romuald Kiando

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adaptor Protein Complex sigma Subunits, Genotype, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Adaptor Protein Complex 2, Parathyroid hormone, 030209 endocrinology & metabolism, Context (language use), Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Hyperparathyroidism, Familial hypocalciuric hypercalcemia, Genetic heterogeneity, business.industry, Biochemistry (medical), Middle Aged, Hyperparathyroidism, Primary, medicine.disease, GTP-Binding Protein alpha Subunits, Urinary calcium, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Parathyroid Hormone, Mutation, Calcium ion homeostasis, Hypercalcemia, Calcium, Female, business, Receptors, Calcium-Sensing, Primary hyperparathyroidism
Abstract

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively.This study aimed to compare the phenotypes of patients with genetically proven FHH types 1 or 3 or PHPT.This was a mutation analysis in a large cohort, a cross-sectional comparison of 52 patients with FHH type 1, 22 patients with FHH type 3, 60 with PHPT, and 24 normal adults.There were no interventions.Abnormalities of the CASR, GNA11, and AP2S1 genes, blood calcium, phosphate, and PTH concentrations, urinary calcium excretion were measured.In 133 families, we detected 101 mutations in the CASR gene, 68 of which were previously unknown, and in 19 families, the three recurrent AP2S1 mutations. No mutation was detected in the GNA11 gene. Patients with FHH type 3 had higher plasma calcium concentrations than patients with FHH type 1, despite having similar PTH concentrations and urinary calcium excretion. Renal tubular calcium reabsorption levels were higher in patients with FHH type 3 than in those with FHH type 1. Plasma calcium concentration was higher whereas PTH concentration and urinary calcium excretion were lower in FHH patients than in PHPT patients. In patients with FHH or PHPT, all data groups partially overlapped.In our population, AP2S1 mutations affect calcium homeostasis more severely than CASR mutations. Due to overlap, the risk of confusion between FHH and PHPT is high.

Published
2016
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9. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Author

Annie Lahoche, Françoise Broux, Ferielle Louillet, Vincent Morinière, Olivia Boyer, Amélie Ryckenwaert, Hanitra Randrianaivo, Elodie Merieau, Said Lebbah, Stéphane Decramer, Marie-Pierre Audrézet, Djalila Mekahli, Sandrine Maestri, Laurence Heidet, Carine Abel, Christine Corbiere, Georges Deschênes, Claude Férec, Ines Ouertani, Rémi Salomon, Sylvie Cloarec, Emilie Cornec-Le Gall, Michel Fischbach, Véronique Baudouin, Chiara Visconti, Ariane Zaloszyc, Gwenaelle Roussey, and Lucie Bessenay

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, TRPP Cation Channels, Adolescent, DNA Mutational Analysis, Autosomal dominant polycystic kidney disease, Mothers, Receptors, Cell Surface, Disease, urologic and male genital diseases, Ultrasonography, Prenatal, Fathers, Young Adult, 03 medical and health sciences, Internal medicine, Polycystic kidney disease, Humans, Medicine, Child, Aged, Hepatocyte Nuclear Factor 1-beta, Retrospective Studies, Cystic kidney, Genetics, PKD1, urogenital system, business.industry, Infant, General Medicine, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, HNF1B, female genital diseases and pregnancy complications, Pedigree, 030104 developmental biology, Endocrinology, Nephrology, Child, Preschool, Mutation, Mutation (genetic algorithm), Mutation testing, Kidney Failure, Chronic, Female, Brief Communications, business
Abstract

Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.

Published
2016
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10. 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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11. Mycophenolate mofetil for steroid-dependent nephrotic syndrome: a phase II Bayesian trial

Author

Evelyne Jacqz-Aigrain, Georges Deschênes, Chantal Loirat, Jean-Luc André, Patrick Niaudet, Véronique Baudouin, Anne-Laure Lapeyraque, Françoise Broux, Stéphane Decramer, Albert Bensman, Corinne Alberti, and Mathilde Cailliez

Subjects
Male, medicine.medical_specialty, Nephrotic Syndrome, Adolescent, Cyclophosphamide, Urology, Pharmacokinetics, Prednisone, medicine, Humans, Prospective Studies, Child, Prospective cohort study, Maintenance dose, Cumulative dose, business.industry, Bayes Theorem, Mycophenolic Acid, medicine.disease, Surgery, Clinical trial, Nephrology, Area Under Curve, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Nephrotic syndrome, Immunosuppressive Agents, medicine.drug
Abstract

Mycophenolate mofetil (MMF) has emerged as a new therapeutic option in steroid-dependent nephrotic syndrome (SDNS). We conducted a phase II Bayesian trial of MMF in children with SDNS. Phase II trials, usually single-arm studies, investigate the effect of new treatments. Standard Fleming's procedure relies on observed results (relapse rate during the trial), whereas Bayesian approach combines observed results with prior information (expected relapse rate according to prior studies and clinical experience). All patients were required to have received prior alkylating-agent treatment. Sixty-seven percent of them had also received levamisole. Patients received MMF (1,200 mg/m(2)/day) and prednisone according to a defined schedule [reduction of alternate-day (e.o.d) dose to 50% of pre-MMF dose at 3 months, 25% at 6 months]. Twenty-four children (median age 6.0 years, 2.8-14.4) entered the study and 23 completed it. Bayesian analysis showed that adding four patients would not change significance of results, allowing stopping inclusions. Four patients relapsed during the first 6 months (estimated probability 17.6%, 95% credibility interval: 5.4-35.0%) and two at months 8 and 11.5. In the 19 patients free of relapse during the first 6 months, median (Q1-Q3) prednisone maintenance dose decreased from 25 (10-44) to 9 (7.5-11.2) mg/m(2) e.o.d (p0.001) and cumulative dose from 459 (382-689) to 264 (196-306) mg/m(2)/month (p0.001) before and on MMF respectively. Pre-MMF patient characteristics and MMF pharmacokinetics did not differ between patients with or without relapse. MMF reduces relapse rate and steroid dose in children with SDNS and should be proposed before cyclosporine and cyclophosphamide.

Published
2011
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12. Darbepoetin, effective treatment of anaemia in paediatric patients with chronic renal failure

Author

Georges Deschênes, Bernard Boudailliez, Michel Fischbach, Marie-France Gagnadoux, Marie-Alice Macher, Michel Tsimaratos, Françoise Broux, Bernard Roussel, Chantal Loirat, Jean-Luc André, Annie Lahoche-Manucci, and Benjamin Horen

Subjects
Nephrology, medicine.medical_specialty, Adolescent, Darbepoetin alfa, Iron, medicine.medical_treatment, Anaemia, Gastroenterology, Drug Administration Schedule, Hemoglobins, Renal Dialysis, Chronic kidney disease, Internal medicine, Chronic renal failure, medicine, Humans, Effective treatment, Pediatrics, Perinatology, and Child Health, Prospective Studies, Dosing, Child, Prospective cohort study, Erythropoietin, Dialysis, business.industry, Anemia, Paediatrics, Surgery, Ferritins, Pediatrics, Perinatology and Child Health, Hematinics, Kidney Failure, Chronic, Original Article, Safety, Haemoglobin, r-HuEPO, business, Peritoneal Dialysis, medicine.drug
Abstract

Darbepoetin alpha (DA) is a unique long-acting treatment for anaemia in patients with chronic renal failure (CRF). This study assessed the mean dose of DA to achieve and maintain haemoglobin (Hb) levels between 11 g/dl and 13 g/dl in CRF children aged 11 years to 18 years. This observational, prospective study was conducted in 39 patients treated with DA. Twenty-nine patients were switched from recombinant human erythropoietin (r-HuEPO), and ten patients were naive to r-HuEPO. Naive patients received initial doses of 0.45 microg/kg of DA. Switched patients received a dose adjusted to the prior dose of r-HuEPO (200 IU r-HuEPO:1 microg DA). Among the switched patients, 79.3% received dialysis. No naive patients underwent dialysis. Overall, 74% of patients showed increased Hb level, with a mean value of 11.6 +/- 1.6 g/dl, using a mean DA dose of 0.63 +/- 0.48 microg/kg per week, and 66.7% patients reached the target Hb level. Hb increased in naive patients from 9.5 (95% CI: 7.7, 11.4) to 11.7 (95% CI: 10.9, 12.6) g/dl and in switched patients from 11.1 (95% CI: 10.6, 11.5) to 11.5 (95% CI: 10.8, 12.2) g/dl). Higher doses of DA were needed in the "switched" than in the "naive" patients to maintain Hb levels over 11 g/dl, respectively 0.73 (95% CI: 0.54, 0.92) and 0.34 (95% CI: 0.16, 0.52) microg/kg per week. Our results indicate the doses of DA necessary to treat CRF patients aged 11 years to 18 years. DA was an effective treatment to stabilise CRF patients at extended dosing intervals.

Published
2007
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13. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Author

Daniel Trujillano, Patrick Niaudet, Amélie Bonnefond, Xavier Jeunemaitre, Pascal Houillier, Olivier Sand, Mark J. Caulfield, Geneviève Beaurain, Stéphanie Miserey-Lenkei, Paul Landais, Robert J. Unwin, Georg Ehret, Chebel Mourani, Olivier Chabre, Vincent L.M. Esnault, Corinne Isnard Bagnis, Christophe Simian, Juliette Hadchouel, Patrick Bruneval, Stephan Ossowski, Béatrice Fiquet, Christelle Soukaseum, Hélène Louis-Dit-Picard, Christel Thauvin, Emmanuelle Vidal-Petiot, Julien Barc, Olena Pylypenko, Steven D. Soroka, Nabila Bouatia-Naji, Michel Delahousse, Philippe Froguel, Jean-Jacques Schott, Xavier Estivill, Jens Koenig, Chantal Mandet, Vincent Probst, Martin Konrad, Françoise Broux, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), 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)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Mécanismes moléculaires du transport intracellulaire, Compartimentation et dynamique cellulaires (CDC), Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Université Pierre et Marie Curie - Paris 6 (UPMC), Epidemiology Unit, Addenbrooke's Hospital-Medical Research Council (MRC), Motilité structurale, Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (GI3M), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Bioinformatique des Génomes et des Réseaux (BiGRe), Université libre de Bruxelles (ULB), Service Génétique, Union nationale des coopératives d’élevage et d’insémination animale (UNCEIA), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), 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), Service d'endocrinologie, CHU Grenoble-Hôpital Michallon, Service de transplantation rénale, Hôpital Foch [Suresnes], Service de néphrologie, Centre Hospitalier Universitaire de Nice (CHU Nice), Pharmaceut, Med & Sci Affairs, Novartis, Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-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), Service de néphrologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Children's Hospital, Munster, Westfälische Wilhelms-Universität Münster (WWU), 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), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), UFR de médecine (Université de Bourgogne), Université de Bourgogne (UB), Royal Free and University College Medical School, Center for Nephrology, Laboratoire de Recherche en Imagerie : Méthodes d'imagerie des Échanges transcapillaires (LRI - EA4062), Universitat Pompeu Fabra [Barcelona] (UPF), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Ehret, Georg Benedikt, 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), Service de Néphrologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de recherche de l'institut du thorax (ITX-lab), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Centre National de la Recherche Scientifique (CNRS), Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Université Paris Descartes - Paris 5 (UPD5)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-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)-Institut Curie-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut Curie-Université Pierre et Marie Curie - Paris 6 (UPMC), Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Université Libre de Bruxelles [Bruxelles] (ULB), Union Nationale des Coopératives Agricoles d'Elevage et d'Insémination Animale, 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), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Génétique Médicale, Hopital, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), and Universitat Pompeu Fabra [Barcelona]

Subjects
Male, Carrier Proteins/genetics, Pseudohypoaldosteronism/genetics/metabolism/physiopathology, Pseudohypoaldosteronism, [SDV]Life Sciences [q-bio], Blood Pressure, 030204 cardiovascular system & hematology, Nephrons/metabolism, Kidney, 0302 clinical medicine, Missense mutation, Child, ComputingMilieux_MISCELLANEOUS, Genetics, ddc:616, Aged, 80 and over, 0303 health sciences, biology, Microfilament Proteins, Middle Aged, WNK1, Phenotype, Sodium Chloride Symporters, WNK4, Ubiquitin ligase, Female, Signal Transduction, Adult, medicine.medical_specialty, Adolescent, Blood Pressure/genetics, Ion Transport/genetics, Molecular Sequence Data, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Amino Acid Sequence, Sodium Chloride Symporters/genetics/metabolism, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aged, Ion Transport, Base Sequence, urogenital system, Kidney metabolism, Nephrons, Sequence Analysis, DNA, medicine.disease, Kidney/metabolism, Endocrinology, Ion homeostasis, biology.protein, Carrier Proteins
Abstract

Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.

Published
2012
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14. Clinical Quiz

Author

Bocquet N, Anne-Laure Lapeyraque, Chantal Loirat, Landthaler G, de Pontual L, Baudouin, Elie Haddad, Françoise Broux, Abbou H, and Dorgeret S

Subjects
03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Nephrology, business.industry, 030225 pediatrics, General surgery, Pediatrics, Perinatology and Child Health, medicine, 030212 general & internal medicine, business, Loin pain-haematuria syndrome, Surgery
Published
2002
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15. Comité de rédaction Liste des auteurs

Author

Anne-Marie Cadart, Marie-Christine Boussier, Marie-France Bouyssou, Nadia Mulot, Simone Haquet, Marie-Pierre Decool, Catherine Fournier, Michel Aparicio, Marie-Claire Arnaud, Christie Aussenac, Chantal Barnay, Jean-Marie Batho, Jeanine Bedrossian, Seddik Benarbia, Gérard Benoît, Chantal Bicocchi, Évelyne Bironneau, Didier Borniche, Françoise Broux, Philippe Brunet, Bernard Charpentier, Jérôme Deldyck, Claude Danielle Desvergnes, Michel Dracon, Jean-Paul Feuillerat, Jean-Paul Fillastre, Joëlle Florit, Philippe Freida, Béatrice Grout, Jean-Pierre Grunfeld, Nicole Larroumet Sornay, Gilbert Landthaler, Isabelle Lecocq, Marie-Paule de Longeas, Férielle Louillet, Élise MaréChaux, Josiane Morat, Christian Noël, Marie-Josée Perroux, Marie-Line Pequignot, Antoine Plusquellec, Michel Plusquellec, Jacky Potier, Thierry Pourchez, Valérie de PréCigout, François Provôt, Marie-Josée Roebroeck, Jean-Philippe Ryckelynck, Colette Touzet, Christian Verger, Annette Artagnan, Jacques Bildet, Françoise de Boisgency, Nicole Chamton, and Annick Petit

Published
2009
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16. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

Author

Chantal Loirat, Olivia Boyer, Georges Deschênes, Mathilde Caillez, Anne Blanchard, Robert Novo, Rosa Vargas-Poussou, Patrick Niaudet, Pierre Cochat, Stéphane Decramer, Claude Guyot, Albert Bensman, Marie-Alice Macher, Karine Brochard, Xavier Jeunemaitre, Françoise Broux, and Denis Morin

Subjects
Male, Polyhydramnios, medicine.medical_specialty, Adolescent, Genotype, Turkey, Sodium-Potassium-Chloride Symporters, Deafness, Bartter syndrome, Gastroenterology, White People, Tubulopathy, Africa, Northern, Chloride Channels, Internal medicine, medicine, Humans, Africa, Central, Potassium Channels, Inwardly Rectifying, Child, Retrospective Studies, Solute Carrier Family 12, Member 1, Transplantation, CLCNKB, biology, business.industry, Bartter Syndrome, Infant, medicine.disease, Hypokalemia, Bartter's syndrome, Nephrocalcinosis, Endocrinology, Phenotype, Nephrology, Child, Preschool, Mutation, biology.protein, Hyperkalemia, Female, medicine.symptom, business, Kidney disease, Follow-Up Studies
Abstract

Background Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of Henle's loop. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. Methods Charts of 42 children with mutations in KCNJ1 (n = 19), SLC12A1 (n = 13) CLCNKB (n = 6) or BSND (n = 4) were retrospectively analysed. The median follow-up was 8.3 [0.4-18.0] years. Results We describe 24 new mutations: 10 in KCNJ1, 11 in SLC12A1 and 3 in CLCNKB. The onset of polyhydramnios, birth term, height and weight were similar for all groups; three patients had no history of polyhydramnios or premature birth and had CLCNKB mutations according to a less severe renal sodium wasting. Contrasting with these data, patients with CLCNKB had the lowest potassium (P = 0.006 versus KCNJ1 and P = 0.034 versus SLC12A1) and chloride plasma concentrations (P = 0.039 versus KCNJ1 and P = 0.024 versus SLC12A1) and the highest bicarbonataemia (P = 0.026 versus KCNJ1 and P = 0.014 versus SLC12A1). Deafness at diagnosis was constant in patients with BSND mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations. Nephrocalcinosis was constant in KCNJ1 and SLC12A1 but not in BSND and CLCNKB patients. In most cases, water/electrolyte supplementation + indomethacin led to catch-up growth. Three patients developed chronic renal failure: one with KCNJ1 mutations during the second decade of age and two with CLCNKB and BSND mutations and without nephrocalcinosis during the first year of life. Conclusions We confirmed in a large cohort of ante/ neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. Chronic renal failure is a rare event, associated in this cohort with three genotypes and not always associated with nephrocalcinosis.

Published
2008

17. Clinical quiz. Loin pain haematuria syndrome

Author

Elie, Haddad, Anne-Laure, Lapeyraque, Loic, de Pontual, Gilbert, Landthaler, Nathalie, Bocquet, Véronique, Baudouin, Sophie, Dorgeret, Herve, Abbou, Françoise, Broux, and Chantal, Loirat

Subjects
Munchausen Syndrome by Proxy, Humans, Pain, Female, Syndrome, Child, Hematuria
Published
2002

18. Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Author

Christel Thauvin, Amélie Bonnefond, Pascal Houillier, Olivier Chabre, Xavier Jeunemaitre, Olena Pylypenko, Steven D. Soroka, Michel Delahousse, Olivier Sand, Philippe Froguel, Robert J. Unwin, Emmanuelle Vidal-Petiot, Corinne Isnard Bagnis, Martin Konrad, Christelle Soukaseum, Xavier Estivill, Jens Koenig, Vincent L.M. Esnault, Patrick Bruneval, Françoise Broux, Julien Barc, Daniel Trujillano, Stephan Ossowski, Béatrice Fiquet, Juliette Hadchouel, Chantal Mandet, Vincent Probst, Hélène Louis-Dit-Picard, Mark J. Caulfield, Geneviève Beaurain, Jean-Jacques Schott, Patrick Niaudet, Stéphanie Miserey-Lenkei, Georg Ehret, Chebel Mourani, Paul Landais, Nabila Bouatia-Naji, and Christophe Simian

Subjects
Genetics, medicine.medical_specialty, Endocrinology, FAMILIAL HYPERKALEMIC HYPERTENSION, Internal medicine, medicine, Biology, Distal nephron, Ion transporter
Published
2012
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19. Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment

Author

Stéphanie Clavé, Michel Tsimaratos, Mohamed Boucekine, Bruno Ranchin, Rémi Salomon, Olivier Dunand, Arnaud Garnier, Annie Lahoche, Marc Fila, Gwenaelle Roussey, Francoise Broux, Jérome Harambat, Sylvie Cloarec, Soraya Menouer, Georges Deschenes, Isabelle Vrillon, Pascal Auquier, and Julie Berbis

Subjects
End-stage renal disease, Adolescents, Initiating haemodialysis, Quality of life, Coping strategies, Bayesian models, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Abstract Background To describe the quality of life of adolescents initiating haemodialysis, to determine the factors associated with quality of life, and to assess coping strategies and their impact on quality of life. Methods All adolescents initiating haemodialysis between September 2013 and July 2015 in French paediatric haemodialysis centres were included. Quality of life data were collected using the “Vécu et Santé Perçue de l’Adolescent et l’Enfant” questionnaire, and coping data were collected using the Kidcope questionnaire. Adolescent’s quality of life was compared with age- and sex-matched French control. Results Thirty-two adolescents were included. Their mean age was 13.9 ± 2.0 years. The quality of life score was lowest in leisure activities and highest in relationships with medical staff. Compared with the French control, index, energy-vitality, relationships with friends, leisure activities and physical well-being scores were significantly lower in haemodialysis population. In multivariate analyses, active coping was positively associated with quality of life and especially with energy-vitality, relationships with parents and teachers, and school performance. In contrast, avoidant and negative coping were negatively associated with energy-vitality, psychological well-being and body image for avoidant coping, and body image and relationships with medical staff for negative coping. Conclusions The quality of life of haemodialysis adolescents, and mainly the dimensions of leisure activities, physical well-being, relationships with friends and energy-vitality, were significantly altered compared to that of the French population. The impact of coping strategies on quality of life seems to be important. Given the importance of quality of life and coping strategies in adolescents with chronic disease, health care professionals should integrate these aspects into care management.

Published
2019
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20. Efficacy and safety of intravenous immunoglobulin with rituximab versus rituximab alone in childhood-onset steroid-dependent and frequently relapsing nephrotic syndrome: protocol for a multicentre randomised controlled trial

Author

Djamal Djeddi, Julien Hogan, Aubriana Perez, Anne-Laure Sellier-Leclerc, Isabelle Vrillon, Francoise Broux, Francois Nobili, Jerome Harambat, Lucie Bessenay, V Audard, Camille Faudeux, Denis Morin, Christine Pietrement, Stephanie Tellier, Philippe Eckart, Annie Lahoche, G Roussey-Kesler, Tim Ulinski, Olivia Boyer, Emmanuelle Plaisier, Sylvie Cloarec, Anne Jolivot, Vincent Guigonis, Sophie Guilmin-Crepon, Veronique Baudouin, Claire Dossier, and Georges Deschênes

Subjects
Medicine
Abstract

Introduction Guidelines for the treatment of steroid-dependent nephrotic syndrome (SDNS) and frequently relapsing nephrotic syndrome (FRNS) are lacking. Given the substantial impact of SDNS/FRNS on quality of life, strategies aiming to provide long-term remission while minimising treatment side effects are needed. Several studies confirm that rituximab is effective in preventing early relapses in SDNS/FRNS; however, the long-term relapse rate remains high (~70% at 2 years). This trial will assess the association of intravenous immunoglobulins (IVIgs) to rituximab in patients with SDNS/FRNS and inform clinicians on whether IVIg’s immunomodulatory properties can alter the course of the disease and reduce the use of immunosuppressive drugs and their side effects.Methods and analysis We conduct an open-label multicentre, randomised, parallel group in a 1:1 ratio, controlled, superiority trial to assess the safety and efficacy of a single infusion of rituximab followed by IVIg compared with rituximab alone in childhood-onset FRNS/SDNS. The primary outcome is the occurrence of first relapse within 24 months. Patients are allocated to receive either rituximab alone (375 mg/m²) or rituximab followed by IVIg, which includes an initial Ig dose of 2 g/kg, followed by 1.5 g/kg injections once a month for the following 5 months (maximum dose: 100 g).Ethics and dissemination The study has been approved by the ethics committee (Comité de Protection des Personnes) of Ouest I and authorised by the French drug regulatory agency (Agence Nationale de Sécurité du Médicament et des Produits de Santé). Results of the primary study and the secondary aims will be disseminated through peer-reviewed publications.Trial registration number NCT03560011.

Published
2020
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21. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Author

Karine Brochard, Olivia Boyer, Anne Blanchard, Chantal Loirat, Patrick Niaudet, Marie-Alice Macher, Georges Deschenes, Albert Bensman, Stéphane Decramer, Pierre Cochat, Denis Morin, Françoise Broux, Mathilde Caillez, Claude Guyot, Robert Novo, Xavier Jeunemaître, and Rosa Vargas-Poussou

Subjects
BARTTER syndrome, PHENOTYPES, NEONATAL diseases, STATISTICAL correlation, BIOLOGICAL variation, GENETIC mutation, KIDNEY calcification, GENETICS
Abstract

Background. Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of Henles loop. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. Methods. Charts of 42 children with mutations in KCNJ1 (n = 19), SLC12A1 (n = 13) CLCNKB (n = 6) or BSND (n = 4) were retrospectively analysed. The median follow-up was 8.3 [0.4–18.0] years. Results. We describe 24 new mutations: 10 in KCNJ1, 11 in SLC12A1 and 3 in CLCNKB. The onset of polyhydramnios, birth term, height and weight were similar for all groups; three patients had no history of polyhydramnios or premature birth and had CLCNKB mutations according to a less severe renal sodium wasting. Contrasting with these data, patients with CLCNKB had the lowest potassium (P = 0.006 versus KCNJ1 and P = 0.034 versus SLC12A1) and chloride plasma concentrations (P = 0.039 versus KCNJ1 and P = 0.024 versus SLC12A1) and the highest bicarbonataemia (P = 0.026 versus KCNJ1 and P = 0.014 versus SLC12A1). Deafness at diagnosis was constant in patients with BSND mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations. Nephrocalcinosis was constant in KCNJ1 and SLC12A1 but not in BSND and CLCNKB patients. In most cases, water/electrolyte supplementation + indomethacin led to catch-up growth. Three patients developed chronic renal failure: one with KCNJ1 mutations during the second decade of age and two with CLCNKB and BSND mutations and without nephrocalcinosis during the first year of life. Conclusions. We confirmed in a large cohort of ante/ neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. Chronic renal failure is a rare event, associated in this cohort with three genotypes and not always associated with nephrocalcinosis. [ABSTRACT FROM AUTHOR]

Published
2009
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22. Syndrome hémolytique et urémique typique de l’enfant de moins de quinze ans : devenir rénal à cinq ans et facteurs pronostiques à propos d’une série monocentrique du CHU de Lille

Author

Moutier, Anne, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Françoise Broux, and Robert Novo

Subjects
Insuffisance rénale aiguë, Shiga-toxines, Syndrome hémolytique et urémique, Escherichia coli producteur de shiga-toxines, Shigatoxine, Devenir rénal, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Le syndrome hémolytique et urémique (SHU) typique associe anémie hémolytique, thrombopénie et insuffisance rénale aiguë. Il apparaît secondairement à une infection à Escherichia coli producteur de shigatoxines. L’atteinte rénale à la phase aiguë peut nécessiter un recours à l’épuration extra-rénale et évoluer vers la maladie rénale chronique.Objectif Le but principal de ce travail était d’évaluer le devenir de la fonction rénale à cinq ans d’évolution chez les patients de moins de quinze ans ayant présenté un SHU typique et d’en définir des facteurs pronostiques.Matériel et méthodesNous avons réalisé une étude descriptive rétrospective sur une cohorte monocentrique de 50 patients pris en charge pour un SHU typique au CHU de Lille entre janvier 2000 et janvier 2014.RésultatsSeize patients (32%) présentaient des signes de séquelle rénale à cinq ans d’évolution. Trois patients (6%) présentaient une diminution du débit de filtration glomérulaire associée à une protéinurie significative. Six patients (12%) présentaient une protéinurie isolée et sept patients (14%) une microalbuminurie pathologique, avec une hypertension artérielle pour l’un deux. À la phase aiguë, les facteurs associés à une évolution rénale défavorable étaient une hyperleucocytose, une hypertension artérielle, le recours à l’épuration extra-rénale, la présence et la durée de l’oligoanurie. La présence d’une protéinurie significative à un an, un débit de filtration glomérulaire diminué à la sortie d’hospitalisation et à six mois d’évolution étaient en faveur de séquelles rénales à cinq ans de suivi. ConclusionNotre étude permet d’insister sur les facteurs associés à la présence de séquelles rénales à 5 ans présents dès la phase aiguë d’un SHU typique et permettant de repérer les patients à risque nécessitant un suivi régulier. Toutefois, l’évolution rénale à long terme reste difficile à évaluer et un suivi prolongé est nécessaire.

Published
2019

23. Paediatric haemolytic uraemic syndrome related to Shiga toxin-producing Escherichia coli, an overview of 10 years of surveillance in France, 2007 to 2016

Author

Simon Le Hello, Alexandra Mailles, Lisa-A King, François-Xavier Weill, Delphine Sergentet-Thevenot, Réseau français hospitalier de surveillance du Shu pédiatrique, Nathalie Jourdan-Da Silva, Malika Gouali, Estelle Loukiadis, Stéphane Bonacorsi, Patricia Mariani-Kurkdjian, Dieter Van Cauteren, Chantal Loirat, Marie-Pierre Donguy, Mathias Bruyand, Henriette de Valk, Sophie Lefèvre, Département des maladies infectieuses, Institut de Veille Sanitaire (INVS), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de Référence - National Reference Center Escherichia coli, Shigella et Salmonella (CNR-ESS), Institut Pasteur [Paris], Santé publique France - French National Public Health Agency [Saint-Maurice, France], Direction Générale de l'Alimentation (DGAL), Ministère de l'agriculture, de l'agroalimentaire et de la forêt, Laboratoire d'Ecologie Microbienne - UMR 5557 (LEM), 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)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Ecole Nationale Vétérinaire de Lyon (ENVL), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Members of the Réseau français hospitalier de surveillance du SHU pédiatrique Djamal-Dine Djeddi: Paediatric and Adolescent Medicine Departement, Centre Hospitalier Universitaire d’Amiens, Amiens, France. Lise Allard: Paediatric Departement, Centre Hospitalier Universitaire d’Angers, Angers, France. Sylvie Roullaud: Paediatric Departement, Centre Hospitalier d’Angoulême, Angoulême, France. François Nobili: Paediatric Nephrology Departement, Centre Hospitalier Universitaire de Besançon, Besançon, France. Brigitte Llanas: Paediatric Nephrology Departement, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France. Loïc de Parscau: Paediatric Departement, Centre Hospitalier Régional Universitaire Morvan, Brest, France. Anne-Laure Sellier-Leclerc: Paediatric Nephrology Departement, hôpital Femme-Mère-Enfant, Bron, France. Philippe Eckart: Paediatric Departement, Centre Hospitalier Universitaire de Caen, Caen, France. Lucie Bessenay: Paediatric Departement, Centre Hospitalier Universitaire Estaing, Clermont Ferrand, France. Frédéric Huet: Paediatric Departement, Hôpital d’Enfants, Dijon, France. Guylhene Bourdat-Michel: Paediatric Departement, Centre Hospitalier Universitaire de Grenoble, Grenoble, France. Corinne Guitton: Paediatric Departement, AP-HP Centre Hospitalier Universitaire Bicêtre, Le Kremlin-Bicêtre, France. Robert Novo: Paediatric Nephrology Departement, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France. Vincent Guigonis: Paediatric Departement, Centre Hospitalier Universitaire Limoges, Limoges, France. Marcel Guillot: Peadiatric Departement, Centre Hospitalier Robert Bisson, Lisieux, France. Michel Tsimaratos: Paediatric Nephrology Departement, Hôpital de la Timone, Marseille, France. Marc Fila: Paediatric Departement, Centre Hospitalier Universitaire de Montpellier, Montpellier, France. Gwenaelle Roussey-Kessler: Paediatric Nephrology Departement, Centre Hospitalier Universitaire de Nantes, Nantes, France. Etienne Berard: Paediatric Nephrology Departement, Centre Hospitalier Universitaire de Nice, Archet 2, Nice, France. Tim Ulinski: Paediatric Nephrology Departement, Hôpital Armand Trousseau, APHP, Paris, France. Chantal Loirat: Paediatric Nephrology Departement, Hôpital Robert Debré, APHP, Paris, France. Pauline Krug: Nephrology Departement, Hôpital Necker Enfants Malades, APHP, Paris, France. Violaine Lefranc: Paediatric Emergencies Departement, Centre Hospitalier Universitaire La Miletrie, Poitiers, France. Catherine Didier-Wright: Paediatric Department, Centre Hospitalier de la Région Annecienne, Pringy, France. Christine Pietremont: Nephrology Department, American Mémorial Hospital, Reims, France. Amélie Ryckewaert: Paediatric Nephrology Departement, Centre Hospitalier Universitaire Rennes, Rennes, France. Françoise Broux: Paediatric Nephrology Departement, Centre Hospitalier Universitaire Charles Nicolle, Rouen, France. Marie-Pierre Lavocat: Paediatric Departement, Hôpital Nord, Centre Hospitalier Universitaire de Saint Etienne, Saint Etienne, France. Joelle Terzic: Paediatric Departement, Centre Hospitalier Universitaire de Strasbourg, Strasbourg, France. Stéphane Decramer: Pediatric Nephrology Department, Centre Hospitalier Universitaire de Toulouse, Toulouse, France. Hubert Nivet: Pediatric Nephrology Department, Centre Hospitalier Universitaire de Tours, Tours, France. Isabelle Vrillon: Paediatric Nephrology Departement, Hôpitaux de Brabois, Centre Hospitalier Universitaire de Nancy, Vandoeuvre Les Nancy, France., Institut Pasteur [Paris] (IP), Université de Lyon-Université de Lyon-Ecole Nationale Vétérinaire de Lyon (ENVL)-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), Centre National de Référence des Escherichia coli, Shigella et Salmonella - Bactéries pathogènes entériques (CNR-ESS), Santé publique France, Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Lyon (ENVL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Infectious Disease Department [Saint Maurice], Agence Nationale de la Santé Publique [Saint-Maurice] (ANSP), and Mzembaba, Sandy

Subjects
Male, food-borne infections, Epidemiology, Shiga Toxins, medicine.disease_cause, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Disease Outbreaks, Feces, 0302 clinical medicine, fluids and secretions, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, haemolytic uraemic syndrome, Medicine, 030212 general & internal medicine, Child, Escherichia coli Infections, 0303 health sciences, Shiga-Toxigenic Escherichia coli, Transmission (medicine), Escherichia coli Proteins, Incidence, E coli, 3. Good health, Population Surveillance, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, surveillance, France, medicine.medical_specialty, Shiga toxin producing Escherichia coli, Microbiology, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, children, Virology, Humans, Serologic Tests, HUS, Sex Distribution, Escherichia coli, Shiga toxin-producing Escherichia coli, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, 030306 microbiology, business.industry, Public Health, Environmental and Occupational Health, Infant, Outbreak, bacterial infections and mycoses, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Hemolytic-Uremic Syndrome, bacteria, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Haemolytic-uraemic syndrome, business
Abstract

Introduction Haemolytic uraemic syndrome (HUS) related to Shiga toxin-producing Escherichia coli (STEC) is the leading cause of acute renal failure in young children. In France, HUS surveillance in children aged Aim We present the results of this surveillance between 2007 and 2016. Methods A voluntary nationwide network of 32 paediatric departments notifies cases. Two national reference centres perform microbiological STEC confirmation. Results Over the study period, the paediatric HUS incidence rate (IR) was 1.0 per 100,000 children-years, with a median of 116 cases/year. In 2011, IR peaked at 1.3 per 100,000 children-years, and decreased to 1.0 per 100,000 children-years in 2016. STEC O157 associated HUS peaked at 37 cases in 2011 and decreased to seven cases in 2016. Cases of STEC O26-associated HUS have increased since 2010 and STEC O80 associated HUS has emerged since 2012, with 28 and 18 cases respectively reported in 2016. Four STEC-HUS food-borne outbreaks were detected (three STEC O157 linked to ground beef and raw-milk cheese and one STEC O104 linked to fenugreek sprouts). In addition, two outbreaks related to person-to-person transmission occurred in distinct kindergartens (STEC O111 and O26). Conclusions No major changes in HUS IRs were observed over the study period of 10 years. However, changes in the STEC serogroups over time and the outbreaks detected argue for continuing epidemiological and microbiological surveillance.

Published
2019
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