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1. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Author

Kathrin Burgmaier, Samuel Kilian, Klaus Arbeiter, Bahriye Atmis, Anja Büscher, Ute Derichs, Ismail Dursun, Ali Duzova, Loai Akram Eid, Matthias Galiano, Michaela Gessner, Ibrahim Gokce, Karsten Haeffner, Nakysa Hooman, Augustina Jankauskiene, Friederike Körber, Germana Longo, Laura Massella, Djalila Mekahli, Gordana Miloševski-Lomić, Hulya Nalcacioglu, Rina Rus, Rukshana Shroff, Stella Stabouli, Lutz T. Weber, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, and The ARegPKD Consortium

Subjects
Medicine, Science
Abstract

Abstract Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies.

Published
2021
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2. Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity

Author

Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K. Bayer, Lenora M. Noroski, Michael T. Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H. Albert, Roshini S. Abraham, Hemalatha G. Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K. Meyer, Amy Theos, T. Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, and Kathleen E. Sullivan

Subjects
inborn errors of immunity, primary immunodeficiency, vaccine-derived rubella viruses, granulomatous inflammation, skin lesion, neutrophils, Immunologic diseases. Allergy, RC581-607
Abstract

Rubella virus (RuV) has recently been found in association with granulomatous inflammation of the skin and several internal organs in patients with inborn errors of immunity (IEI). The cellular tropism and molecular mechanisms of RuV persistence and pathogenesis in select immunocompromised hosts are not clear. We provide clinical, immunological, virological, and histological data on a cohort of 28 patients with a broad spectrum of IEI and RuV-associated granulomas in skin and nine extracutaneous tissues to further delineate this relationship. Combined immunodeficiency was the most frequent diagnosis (67.8%) among patients. Patients with previously undocumented conditions, i.e., humoral immunodeficiencies, a secondary immunodeficiency, and a defect of innate immunity were identified as being susceptible to RuV-associated granulomas. Hematopoietic cell transplantation was the most successful treatment in this case series resulting in granuloma resolution; steroids, and TNF-α and IL-1R inhibitors were moderately effective. In addition to M2 macrophages, neutrophils were identified by immunohistochemical analysis as a novel cell type infected with RuV. Four patterns of RuV-associated granulomatous inflammation were classified based on the structural organization of granulomas and identity and location of cell types harboring RuV antigen. Identification of conditions that increase susceptibility to RuV-associated granulomas combined with structural characterization of the granulomas may lead to a better understanding of the pathogenesis of RuV-associated granulomas and discover new targets for therapeutic interventions.

Published
2021
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3. Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia

Author

Annika Ewert, Mirko Rehberg, Karl Peter Schlingmann, Olaf Hiort, Ulrike John-Kroegel, Oliver Metzing, Elke Wühl, Franz Schaefer, Markus J Kemper, Ute Derichs, Annette Richter-Unruh, Ludwig Patzer, Norbert Albers, Desiree Dunstheimer, Holger Haberland, Sabine Heger, Carmen Schröder, Norbert Jorch, Elmar Schmid, Hagen Staude, Marcus Weitz, Clemens Freiberg, Maren Leifheit-Nestler, Miroslav Zivicnjak, Dirk Schnabel, and Dieter Haffner

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
Abstract

Context Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking. Objective To assess the effects of 12 months of burosumab treatment on mineral metabolism in children (aged Design Prospective national registry. Setting Hospital clinics. Patients A total of 93 patients with XLH (65 children, 28 adolescents). Main Outcome Measures Z scores for serum phosphate, alkaline phosphatase (ALP), and renal tubular reabsorption of phosphate per glomerular filtration rate (TmP/GFR) at 12 months. Results At baseline, patients showed hypophosphatemia (−4.4 SD), reduced TmP/GFR (−6.5 SD), and elevated ALP (2.7 SD, each P < .001 vs healthy children) irrespective of age, suggesting active rickets despite prior therapy with oral phosphate and active vitamin D in 88% of patients. Burosumab treatment resulted in comparable increases in serum phosphate and TmP/GFR in children and adolescents with XLH and a steady decline in serum ALP (each P < .001 vs baseline). At 12 months, serum phosphate, TmP/GFR, and ALP levels were within the age-related normal range in approximately 42%, 27%, and 80% of patients in both groups, respectively, with a lower, weight-based final burosumab dose in adolescents compared with children (0.72 vs 1.06 mg/kg, P < .01). Conclusions In this real-world setting, 12 months of burosumab treatment was equally effective in normalizing serum ALP in adolescents and children, despite persistent mild hypophosphatemia in one-half of patients, suggesting that complete normalization of serum phosphate is not mandatory for substantial improvement of rickets in these patients. Adolescents appear to require lower weight-based burosumab dosage than children.

Published
2023
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4. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Author

Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude, and UCL - (SLuc) Service de pédiatrie générale

Subjects
0301 basic medicine, fibrocystin, 030232 urology & nephrology, Fibrocystin, fibrocystic hepatorenal disease, Receptors, Cell Surface, Disease, Kidney, Ciliopathies, 03 medical and health sciences, 0302 clinical medicine, Ultrasound, Polycystic kidney disease, medicine, Missense mutation, Humans, Child, Genetic Association Studies, Polycystic Kidney, Autosomal Recessive, Genetics, polycystic kidney disease, biology, PKD, Cilium, Protein, cilia, Encodes, medicine.disease, Phenotype, Autosomal Recessive Polycystic Kidney Disease, 030104 developmental biology, Nephrology, Child, Preschool, Mutation, biology.protein, ciliopathies, Mutations
Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches. German Society for Pediatric Nephrology (GPN); ESCAPE Network; European Society for Paediatric Nephrology (ESPN); German PKD foundation; Koeln Fortune program; GEROK program of the Medical Faculty of University of Cologne; Marga and Walter Boll-Foundation; German Federal Ministry of Research and Education (BMBF)Federal Ministry of Education & Research (BMBF) [01GM1515, 01GM1903]; working group CAKUT of the ESPN; working group Inherited Kidney Diseases of the ESPN We thank the German Society for Pediatric Nephrology (GPN) and the ESCAPE Network for their support. We thank Mr Mathias Burgmaier (Aachen) and Mr Samuel Kilian (Heidelberg) for support in conducting statistical analysis. ML was supported by grants of the GPN, the European Society for Paediatric Nephrology (ESPN), the German PKD foundation, the Koeln Fortune program, the GEROK program of the Medical Faculty of University of Cologne, and the Marga and Walter Boll-Foundation. FS, CB, and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). KB was supported by the Koeln Fortune program and the GEROK program of the Medical Faculty of University of Cologne, as well as the Marga and Walter Boll-Foundation. This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet). The work was supported by the working groups CAKUT and Inherited Kidney Diseases of the ESPN.

Published
2021

5. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author

Kathrin Burgmaier, Kevin Kunzmann, Gema Ariceta, Carsten Bergmann, Anja Katrin Buescher, Mathias Burgmaier, Ismail Dursun, Ali Duzova, Loai Eid, Florian Erger, Markus Feldkoetter, Matthias Galiano, Michaela Geßner, Heike Goebel, Ibrahim Gokce, Dieter Haffner, Nakysa Hooman, Bernd Hoppe, Augustina Jankauskiene, Guenter Klaus, Jens König, Mieczyslaw Litwin, Laura Massella, Djalila Mekahli, Engin Melek, Sevgi Mir, Lars Pape, Larisa Prikhodina, Bruno Ranchin, Raphael Schild, Tomas Seeman, Lale Sever, Rukshana Shroff, Neveen A. Soliman, Stella Stabouli, Malgorzata Stanczyk, Yilmaz Tabel, Katarzyna Taranta-Janusz, Sara Testa, Julia Thumfart, Rezan Topaloglu, Lutz Thorsten Weber, Dorota Wicher, Elke Wühl, Simone Wygoda, Alev Yilmaz, Katarzyna Zachwieja, Ilona Zagozdzon, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau, Nadejda Ranguelov, Nathalie Godefroid, Laure Collard, Jacques Lombet, Julie Maquet, Gesa Schalk, Uwe Querfeld, Bodo B. Beck, Thomas Benzing, Reinhard Buettner, Franziska Grundmann, Christine Kurschat, Kerstin Benz, Anja Tzschoppe, Björn Buchholz, Rainer Buescher, Karsten Häffner, Martin Pohl, Oliver Gross, Jenny Krügel, Johanna Stock, Ludwig Patzer, Jun Oh, Wanja Bernhardt, Anke Doyon, Tobias Vinke, Anja Sander, Michael Henn, Ute Derichs, Rolf Beetz, Nikola Jeck, Bärbel Lange-Sperandio, Sabine Ponsel, Franziska Kusser, Barbara Uetz, Marcus Benz, Silke Schmidt, Christina Huppertz-Kessler, Birgitta Kranz, Andrea Titieni, Donald Wurm, Heinz E. Leichter, Martin Bald, Heiko Billing, Marwa M. Nabhan, Luis Enrique Lara, Fotios Papachristou, Francesco Emma, Rimante Cerkauskiene, Karolis Azukaitis, Anna Wasilewska, Irena Balasz-Chmielewska, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Marcin Zaniew, Ania Niemirska, Jolanta Antoniewicz, Justyna Lesiak, Alberto Caldas Afonso, Ana Teixeira, Gordana Milosevski-Lomic, Dusan Paripović, Amira Peco-Antic, Svetlana Papizh, Aysun Karabay Bayazit, Ali Anarat, Alper Soylu, Salih Kavukcu, Cengiz Candan, Salim Caliskan, Nur Canpolat, Sevinc Emre, Harika Alpay, Nurver Akinci, Secil Conkar, Hakan M. Poyrazoglu, Ruhan Dusunsel, Çukurova Üniversitesi, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph

Subjects
Male, 0301 basic medicine, Time Factors, medicine.medical_treatment, ARPKD, Medizin, 030232 urology & nephrology, PROTEIN, Oligohydramnios, Pediatrics, PKHD1 MUTATIONS, 0302 clinical medicine, Pregnancy, Risk Factors, Prospective Studies, ENCODES, GENOTYPE-PHENOTYPE CORRELATIONS, Obstetrics, Hazard ratio, Autosomal Recessive Polycystic Kidney Disease, CLINICAL-EXPERIENCE, Female, Apgar score, Life Sciences & Biomedicine, renal replacement therapy, medicine.medical_specialty, GENETICS, PKHD1, Risk Assessment, Ultrasonography, Prenatal, 03 medical and health sciences, Renal Dialysis, medicine, Humans, Renal replacement therapy, Dialysis, Polycystic Kidney, Autosomal Recessive, Retrospective Studies, Science & Technology, business.industry, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, 030104 developmental biology, ciliopathy, Pediatrics, Perinatology and Child Health, business, oligohydramnios, Follow-Up Studies
Abstract

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. STUDY DESIGN: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. RESULTS: Thirty-six out of 385 children (9.4%) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5% (95% CI, 0.5%-4.1%) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3% (95% CI, 22.2%-44.5%) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. CONCLUSIONS: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD. ispartof: JOURNAL OF PEDIATRICS vol:199 pages:22-+ ispartof: location:United States status: published

Published
2018

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