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Published January 1, 2024 | Version v1
Journal article Open

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

Creators

  • 1. Univ Paris Cite, Imagine Inst Genet Dis, Lab Malad Renales Hereditaires, Inserm UMR 1163, Paris, France
  • 2. Hop Necker Enfants Malad, Hop Paris AP HP, Assistance publ, Serv Med Genom Malad Rares, Paris, France
  • 3. Med Univ Gdansk, Dept Pediat Nephrol & Hypertens, Gdansk, Poland
  • 4. Padua Univ Hosp, Pediat Nephrol Unit, Padua, Italy
  • 5. CHRU Tours Clocheville, Ctr competence Malad Renales Rares, Serv Nephrol Hemodialyse Pediat, Tours, France
  • 6. Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria
  • 7. Charite Campus Virchox Klinikum, Klin Padiatrie Nephrol, Berlin, Germany
  • 8. Hop mere & enfant, Pediat, Limoges, France
  • 9. Cukurova Univ, Div Pediat Nephrol, Adana, Turkiye
  • 10. Hannover Med Sch, Childrens Hosp, Hannover, Germany
  • 11. Natl Res Ctr Maternal & Child Heatlh, Astana, Kazakhstan
  • 12. Univ Med Ctr Hamburg Eppendorf, Pediat Nephrol, Hamburg, Germany
  • 13. Hacettepe Univ, Fac Med, Dept Pediat Nephrol, Sihhiye, Ankara, Turkiye
  • 14. Univ Lyon, Hop Femme Mere Enfant, Pediat Nephrol Unit, Hosp Civils Lyon, Lyon, France

Description

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 1 / 4 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.

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