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Article

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

Kidney international - 1 Dec 2014

Malone Andrew F, Phelan Paul J, Hall Gentzon, Cetincelik Umran, Homstad Alison, Alonso Andrea S, Jiang Ruiji, Lindsey Thomas B, Wu Guanghong, Sparks Matthew A, Smith Stephen R, Webb Nicholas J A, Kalra Philip A, Adeyemo Adebowale A, Shaw Andrey S, Conlon Peter J, Jennette J Charles, Howell David N, Winn Michelle P, Gbadegesin Rasheed A

Abstract excerpt

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known...

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Identifiers

PMID: 25229338
DOI: 10.1038/ki.2014.305
PMCID: PMC4245465

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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