Management of children with congenital nephrotic syndrome: challenging treatment paradigms

ESPN Dialysis Working Group, Stephanie Dufek, Tuula Holtta, Agnes Trautmann, Elisa Ylinen, Harika Alpay, Gema Ariceta, Christoph Aufricht, Justine Bacchetta, Sevcan A. Bakkaloglu, Aysun Bayazit, Rumeysa Yasemin Cicek, Ismail Dursun, Ali Duzova, Mesiha Ekim, Daniela Iancu, Augustina Jankauskiene, Günter Klaus, Fabio Paglialonga, Andrea PasiniNikoleta Printza, Valerie Said Conti, Maria do Sameiro Faria, Claus Peter Schmitt, Constantinos J. Stefanidis, Enrico Verrina, Enrico Vidal, Karel Vondrak, Hazel Webb, Argyroula Zampetoglou, Detlef Bockenhauer, Alberto Edefonti, Rukshana Shroff

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Management of children with congenital nephrotic syndrome (CNS) is challenging. Bilateral nephrectomies followed by dialysis and transplantation are practiced in most centres, but conservative treatment may also be effective. METHODS: We conducted a 6-year review across members of the European Society for Paediatric Nephrology Dialysis Working Group to compare management strategies and their outcomes in children with CNS. RESULTS: Eighty children (50% male) across 17 tertiary nephrology units in Europe were included (mutations in NPHS1, n = 55; NPHS2, n = 1; WT1, n = 9; others, n = 15). Excluding patients with mutations in WT1, antiproteinuric treatment was given in 42 (59%) with an increase in S-albumin in 70% by median 6 (interquartile range: 3-8) g/L (P < 0.001). Following unilateral nephrectomy, S-albumin increased by 4 (1-8) g/L (P = 0.03) with a reduction in albumin infusion dose by 5 (2-9) g/kg/week (P = 0.02). Median age at bilateral nephrectomies (n = 29) was 9 (7-16) months. Outcomes were compared between two groups of NPHS1 patients: those who underwent bilateral nephrectomies (n = 25) versus those on conservative management (n = 17). The number of septic or thrombotic episodes and growth were comparable between the groups. The response to antiproteinuric treatment, as well as renal and patient survival, was independent of NPHS1 mutation type. At final follow-up (median age 34 months) 20 (80%) children in the nephrectomy group were transplanted and 1 died. In the conservative group, 9 (53%) remained without dialysis, 4 (24%; P < 0.001) were transplanted and 2 died. CONCLUSION: An individualized, stepwise approach with prolonged conservative management may be a reasonable alternative to early bilateral nephrectomies and dialysis in children with CNS and NPHS1 mutations. Further prospective studies are needed to define indications for unilateral nephrectomy.

Original languageEnglish
Pages (from-to)1369-1377
Number of pages9
JournalNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Issue number8
Publication statusPublished - Aug 1 2019


  • bilateral nephrectomies
  • congenital nephrotic syndrome
  • genotype–phenotype correlation
  • management approach, NPHS1

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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