A Family With Alport's Syndrome of Hereditary Nephritis and Deafness

Abstract

SUMMARY A family is reported, in which four of the six siblings are affected by a nephropathy and two of these siblings are deaf. This fulfils the criteria for a diagnosis of Alport's syndrome. The renal lesion in this family appears to be indistinguishable from chronic glomerulonephritis, and the clinical manifestation of this nephropathy was as bouts of hæmaturia since childhood. The two affected males were more severely affected than the females, the eldest male having died at the age of 25 years from chronic renal failure. The more unusual manifestations of this syndrome—namely, the ocular and mental changes or the amino aciduria—were not present in this family.