Hereditary (familial) renal disease: clinical and genetic studies

Four or more generations of three Oklahoma-Kansas families in which multiple members have been found to have glomerulonephritis or interstitial nephritis have been studied. Twenty-five of 146 members in kindred A, 16 of 50 members in kindred B, and 33 of 156 members in kindred C were identified as probably to definitely afflicted. Renal tissue from members of the first two families showed an acute or chronic glomerulonephritis. Renal failure often appeared by the third decade. The lesions were less frequent but more rapidly lethal in the male members. Renal tissue from members of the third kindred showed an interstitial nephritis. This appeared later in life and followed a more chronic course. Hearing loss was common in both groups. The hereditary studies are consistent with the hypothesis that the disease is transmitted by an autosomal dominant gene with imcomplete penetrance (not all members carrying the gene develop renal disease) and variable expressivity. Male-to-male transmission was present in all three families but less frequently than would be predicted, suggesting a reduced clinical expression of the disease in males who receive the mutant gene from their father.