Nephropathy, Deafness, And Hyperparathyroidism

Among the children of a consanguineous Pakistani family, Edwards et al. (1989) found renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia, and sensorineural deafness. Of 6 sibs, 5 were affected in some way: 1 brother had deafness and renal failure only; a brother and a sister had deafness, renal failure, and hyperparathyroidism; a sister had deafness and hyperparathyroidism only; and a brother had deafness only. Edwards et al. (1989) concluded that the condition is distinct from Alport syndrome (301050), which usually includes hematuria, is not associated with hyperparathyroidism, and is X-linked in its best studied form, although there is an autosomal dominant (104200) and possibly an autosomal recessive (203780) form.