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Article

Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2022

Barua Moumita, Paterson Andrew D

Abstract excerpt

Specific variants in genes that encode the α3α4α5 chains of type IV collagen cause Alport syndrome (AS), which encompass a clinical spectrum from isolated hematuria to multisystem disease affecting sight, hearing and kidney function. The commonest form is X-linked Alport syndrome (XLAS; COL4A5) with autosomal AS (COL4A3 and COL4A4) comprising a minority of cases. While historic data estimates the frequency of AS...

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PMID: 33635378
DOI: 10.1007/s00467-021-04934-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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