Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.

doi:10.1053/j.ajkd.2021.04.017

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Article

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2021

Savige Judy, Harraka Philip

Abstract excerpt

Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) in as many as 30% of individuals with focal and segmental glomerulosclerosis (FSGS), 10% of those with kidney failure of unknown cause, and 20% with familial immunoglobulin A (IgA) glomerulonephritis. FSGS associated with COL4A3-COL4A5 variants is usually present by the onset of kidney failure and...

Topics

Autoantigens
Collagen Type IV
Glomerulosclerosis, Focal Segmental
Hematuria
Humans
Kidney
Mutation
Nephritis, Hereditary

Source

Open in PubMed

Identifiers

PMID: 34245817
DOI: 10.1053/j.ajkd.2021.04.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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