Alport's syndrome. Issue 4 (April 1997)

• Record Type: Journal Article
• Authors: Flinter, F
• Is Part Of: Journal of medical genetics. Volume 34:Issue 4(1997)
• Page Start: 326
• Page End: 330
• Publication Date: 1997-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.4.326
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000. During the last six years several type IV collagen genes have been implicated in the aetiology of AS, and mutation detection studies are enabling genotype/phenotype correlations to be made, as well as facilitating carrier detection and prenatal diagnosis.