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Article

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Oct 2008

Philippe Aurélie, Nevo Fabien, Esquivel Ernie L, Reklaityte Dalia, Gribouval Olivier, Tête Marie-Josèphe, Loirat Chantal, Dantal Jacques, Fischbach Michel, Pouteil-Noble Claire, Decramer Stéphane, Hoehne Martin, Benzing Thomas, Charbit Marina, Niaudet Patrick, Antignac Corinne

Abstract excerpt

Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children with mutations in NPHS2, which encodes podocin, present later with steroid-resistant nephrotic syndrome. Recently, however, NPHS2 mutations have been identified in children with congenital nephrotic syndrome. Whether...

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Source

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Identifiers

PMID: 18614772
DOI: 10.1681/ASN.2008010059
PMCID: PMC2551572

Genes

NPHS1
NPHS2

Provenance

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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Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.PMID 18614772Read ↗

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

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NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).Semantic proximity Read ↗

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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