Alport's syndrome.
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.
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Division of Medical and Molecular Genetics, Guy's Hospital, London.
D003094:Collagen / Q000235:genetics; D005260:Female; D015316:Genetic Therapy; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010641:Phenotype; D014960:X Chromosome
D003094:Collagen