[Alport-Perkoff's syndrome (two cases report)].
Two patients affected with Alport's syndrome belonging respectively to two families with a high incidence of urinary, auditive and ocular symtoms, are described. The most relevant features are commented pointing out that Alport's syndrome could be a structural malformation of the whole or only one part of a type of colagen probably specific of the basal membrane of the glomerulus which could be more easily affected forming toxic metabolites. Finally a reference to the histologic study is made.
D002648:Child; D002675:Child, Preschool; D006801:Humans; D007668:Kidney / Q000503:physiopathology; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D010375:Pedigree
Síndrome de Alport-Perkoff (a propósito de dos observaciones