NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

doi:10.1002/humu.22485

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Article

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Human mutation - 1 Feb 2014

Bouchireb Karim, Boyer Olivia, Gribouval Olivier, Nevo Fabien, Huynh-Cong Evelyne, Morinière Vincent, Campait Raphaëlle, Ars Elisabet, Brackman Damien, Dantal Jacques, Eckart Philippe, Gigante Maddalena, Lipska Beata S, Liutkus Aurélia, Megarbane André, Mohsin Nabil, Ozaltin Fatih, Saleem Moin A, Schaefer Franz, Soulami Kenza, Torra Roser, Garcelon Nicolas, Mollet Géraldine, Dahan Karin, Antignac Corinne

Abstract excerpt

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal-recessive form of nonsyndromic steroid-resistant nephrotic syndrome in both pediatric and adult patients. Patients with homozygous or compound heterozygous mutations commonly present with steroid-resistant nephrotic syndrome before the age of 6 years and rapidly progress to end-stage kidney disease with a very low prevalence of recurrence...

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PMID: 24227627
DOI: 10.1002/humu.22485

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NPHS2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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