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Article

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

Journal of the American Society of Nephrology : JASN - 1 Feb 2002

Frishberg Yaacov, Rinat Choni, Megged Orli, Shapira Eli, Feinstein Sofia, Raas-Rothschild Annick

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) represents a heterogeneous group of kidney disorders that are often resistant to other immunosuppressive agents and tend to progress to end-stage renal failure. Mutations in the gene NPHS2 that encode a protein named podocin have recently been found in a recessive form of SRNS. Ten children from two inbred families of Israeli-Arab descent presented with SRNS. Renal...

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Source

Identifiers

PMID: 11805168
DOI: 10.1681/ASN.V132400

Genes

NPHS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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