Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence

Kachmar J. Boyer O. Lipska-Ziętkiewicz B. Morinière V. Gribouval O. Heidet L. Balasz-Chmielewska I. Benetti E. Cloarec S. Csaicsich D. Decramer S. Gellermann J. Guigonis V. Hogan J. Bayazit A.K. Melk A. Nigmatullina N. Oh J. Ozaltin F. Ranchin B. Tsimaratos M. Trautmann A. Antignac C. Schaefer F. Dorval G.
April 2024 Elsevier Inc.

Kidney International Reports
2024 #9 Issue 4 973 - 981 pp.

Introduction: Unlike idiopathic nephrotic syndrome (NS), hereditary podocytopathies are not expected to recur after kidney transplantation. However, some reports of posttransplant recurrence of NS in patients carrying variants in the NPHS2 gene have been described, notably with the p.Arg138Gln variant, which is more prevalent in Europe. The objective of this study was to assess the risk of recurrence after kidney transplantation in a large cohort of patients with biallelic NPHS2 pathogenic variants. Methods: Since January 2010, 61 patients identified at Necker-Enfants Malades Hospital and 56 enrolled in the PodoNet Registry with biallelic variants in the NPHS2 gene were transplanted and were compared with 44 transplanted children with steroid-resistant NS (SRNS) without any identified pathogenic variant. Results: Of the 117 patients, 23 carried the p.Arg138Gln variant in the homozygous state and 16 in the compound heterozygous state. The other 78 patients carried different variants in the homozygous (n = 44) or compound heterozygous state. Only 1 patient with NPHS2-related SRNS experienced posttransplant recurrence (median follow-up of cohort 8.5 years [2.5–15]). Conversely, 7 of 44 patients (16%) without any identified pathogenic variant recurred within a maximum of 7 days after transplantation (median follow-up 8.9 years [0.6–13.9]). Conclusion: In this large cohort, the risk of patients with causative variants in the NPHS2 gene to develop NS recurrence after kidney transplantation was extremely low. This is coherent with the pathophysiology of intrinsic slit-diaphragm disease. These data are reassuring and should be considered when counselling patients, making living kidney donation, whether related or not, a safe choice.

glomerular disease , hereditary nephrotic syndrome , kidney transplantation , NPHS2 gene , posttransplant recurrence , steroid-resistant nephrotic syndrome

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Laboratoire des Maladies Rénales Héréditaires, Inserm UMR, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, 1163, France
Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France
Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland
Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France
Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdansk, Gdansk, Poland
Pediatric Nephrology Unit, Padua University Hospital, Padua, Italy
Service de Néphrologie-Hémodialyse pédiatrique, Centre de compétence Maladies Rénales Rares, CHRU Tours-Clocheville, Tours, France
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
Pediatric Nephrology Unit, Toulouse University Hospital;, Centre De Référence Des Maladies Rénales Rares du Sud-Ouest, SoRare;, INSERM, Institute of Cardiovascular and Metabolic Diseases, Toulouse, U1048, France
Klinik für Pädiatrie/Nephrologie, Charité Campus Virchox-Klinikum, Berlin, Germany
Pediatrics, Hôpital de la mère et de lenfant, Limoges, France
Pediatric Nephrology, Hôpital Universitaire Robert-Debré;, Paris Translational Research Center for Organ Transplantation, Inserm UMR-S970, Université Paris Cité, Paris, France
Division of Pediatric Nephrology, Cukurova University, Adana, Turkey
Childrens Hospital, Hannover Medical School, Hannover, Germany
National Research Center for Maternal and Child Heatlh, Astana, Kazakhstan
Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Department of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara, Turkey
Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, Lyon, France
Faculté de médecine de Marseille, Université de la Méditerranée, Marseille, France
Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany

Laboratoire des Maladies Rénales Héréditaires
Service de néphrologie pédiatrique Centre de Référence MARHEA
Centre for Rare Diseases and Clinical Genetics Unit
Service de Médecine Génomique des Maladies Rares
Department of Pediatrics
Pediatric Nephrology Unit
Service de Néphrologie-Hémodialyse pédiatrique
Department of Pediatrics and Adolescent Medicine
Pediatric Nephrology Unit
Klinik für Pädiatrie/Nephrologie
Pediatrics
Pediatric Nephrology
Division of Pediatric Nephrology
Childrens Hospital
National Research Center for Maternal and Child Heatlh
Pediatric Nephrology
Department of Pediatric Nephrology
Pediatric Nephrology Unit
Faculté de médecine de Marseille
Department of Pediatric Nephrology

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