The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome | Zendy

Helen Hanson | Zendy; Helen Storey | Zendy; Judith Pagan | Zendy; Frances Flinter | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

The Value of Clinical Criteria in Identifying Patients with X-Linked Alport Syndrome

Author(s) -

Helen Hanson,

Helen Storey,

Judith Pagan,

Frances Flinter

Publication year - 2010

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.00200110

Subject(s) - medicine , alport syndrome , mutation , mutation testing , x linked recessive inheritance , genetic testing , genetics , x chromosome , gene , glomerulonephritis , biology , kidney

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 COL4A5 with a combination of sequencing and multiplex ligation-dependent probe amplification has been available for several years. The objective of this study was to determine the utility of clinical diagnostic criteria in identifying patients likely to have a COL4A5 mutation.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research