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Article

The value of clinical criteria in identifying patients with X-linked Alport syndrome.

Clinical journal of the American Society of Nephrology : CJASN - 1 Jan 2011

Hanson Helen, Storey Helen, Pagan Judith, Flinter Frances

Abstract excerpt

BACKGROUND AND OBJECTIVES: Alport syndrome (AS) is a predominantly X-linked hereditary nephritis associated with high-tone, sensorineural deafness and characteristic eye signs. Clinical diagnostic criteria were defined in 1988. Most cases result from mutations in the X-linked collagen gene COL4A5, with mutations in the autosomal genes COL4A3 and COL4A4 on chromosome 2 accounting for the rest. Mutation analysis of...

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Identifiers

PMID: 20884774
DOI: 10.2215/CJN.00200110
PMCID: PMC3022243

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Source receipt: pubmed, retrieved 7 Sept 2026.

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