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Article

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2015

Uysal Berfin, Dönmez Osman, Uysal Fahrettin, Akacı Okan, Vuruşkan Berna Aytaç, Berdeli Afig

Abstract excerpt

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported...

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Source

Identifiers

PMID: 25711261
DOI: 10.1111/ped.12418

Genes

NPHS1

Variants

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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