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Article

Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.

Nephrology (Carlton, Vic.) - 1 Dec 2005

Ardiles Leopoldo G, Carrasco Alejandra E, Carpio Juan D, Mezzano Sergio A

Abstract excerpt

A case of two young adult brothers with nephrotic syndrome secondary to focal segmental glomerulosclerosis is reported. Steroid resistance prompted us to perform genetic studies. These showed a compound heterozygous mutation of NPHS2, the gene encoding podocin. It was composed of a missense mutation in exon 7 (A284V) and the non-neutral polymorphism R229Q in exon 5. We review literature supporting the genetic...

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Identifiers

PMID: 16354237
DOI: 10.1111/j.1440-1797.2005.00481.x

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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Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.PMID 16354237Read ↗

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