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

Autor: Kachmar J; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France., Boyer O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France., Lipska-Ziętkiewicz B; Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland., Morinière V; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France., Gribouval O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France., Heidet L; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France., Balasz-Chmielewska I; Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdansk, Gdansk, Poland., Benetti E; Pediatric Nephrology Unit, Padua University Hospital, Padua, Italy., Cloarec S; Service de Néphrologie-Hémodialyse pédiatrique, Centre de compétence Maladies Rénales Rares, CHRU Tours-Clocheville, Tours, France., Csaicsich D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Decramer S; Pediatric Nephrology Unit, Toulouse University Hospital; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest, SoRare; INSERM U1048, Institute of Cardiovascular and Metabolic Diseases, Toulouse, France., Gellermann J; Klinik für Pädiatrie/Nephrologie, Charité Campus Virchox-Klinikum, Berlin, Germany., Guigonis V; Pediatrics, Hôpital de la mère et de l'enfant, Limoges, France., Hogan J; Pediatric Nephrology, Hôpital Universitaire Robert-Debré; Paris Translational Research Center for Organ Transplantation, Inserm UMR-S970, Université Paris Cité, Paris, France., Bayazit AK; Division of Pediatric Nephrology, Cukurova University, Adana, Türkiye., Melk A; Children's Hospital, Hannover Medical School, Hannover, Germany., Nigmatullina N; National Research Center for Maternal and Child Heatlh, Astana, Kazakhstan., Oh J; Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ozaltin F; Department of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara, Türkiye., Ranchin B; Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, Lyon, France., Tsimaratos M; Faculté de médecine de Marseille, Université de la Méditerranée, Marseille, France., Trautmann A; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany., Antignac C; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France., Schaefer F; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany., Dorval G; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.
Jazyk: angličtina
Zdroj: Kidney international reports [Kidney Int Rep] 2024 Jan 10; Vol. 9 (4), pp. 973-981. Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2024).
DOI: 10.1016/j.ekir.2024.01.005
Abstrakt: 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.
(© 2024 International Society of Nephrology. Published by Elsevier Inc.)
Databáze: MEDLINE
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