Alport's syndrome

Alport's syndrome is of interest to geneticists because it has probably been the subject of more hypotheses regarding its inheritance than any other disease. The two cardinal features of hereditary nephritis and perceptive deafness were first clearly recognised by Alport in a family he reported in 1927.1 He acknowledged the help of A E Garrod and Alexander Fleming in the investigation of this family. His family had been the subject of several earlier incomplete reports, 2-5 the latest of which had recognised the severe course of the disease in males with early death from renal failure, and the relatively benign course in females. The disorder attracted no further interest until Perkoff and Stephens studied an extensive Mormon family in the 1950s.68 These authors regarded the disease as an interstitial nephritis or pyelonephritis with proteinuria, haematuria, pyuria, and urinary casts. Many affected members of their family had a progressive perceptive high tone hearing loss that was either clinically significant or was detected on audiography.