ALPORT SYNDROM

Abstract

A deaf and dumb patient died at the age of 10 of failure of the kidneys. An uncle of the boy died at the age of 42, an aunt at the age of 16 yr, both of atrophic kidneys. The mother of the proband has a unilateral hearing defect besides recurrent episodes of pyuria. Repeated examinations in 2 aunts revealed slight pyuria resp. erythruria. Contrary to most reports affected members of the family showed pyuria rather than hematuria. A special inheritance could not be proved.