The clinical, pathological, and genetic features of Alport's syndrome are presented and discussed with reference to seven families previously unreported. The commonly described features of hematuria, nerve deafness, progressive renal failure, and early death were observed. A close correlation of clinical and renal pathological changes was discovered. Evidence suggests that the primary lesion is glomerular, probably in the basement membrane, with progressive renal changes ensuing. Inheritance is most likely autosomal dominant with variable penetrance and expressivity. Implications in clinical pediatrics and genetic counseling are stressed.
Ferguson AC, Rance CP. Hereditary Nephropathy With Nerve Deafness (Alport's Syndrome). Am J Dis Child. 1972;124(1):84–88. doi:10.1001/archpedi.1972.02110130086013
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.