Familial nephrosis, nerve deafness, and hypoparathyroidism.
Two male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are described. Each child, one at five years of age and the other at eight years, died in renal failure. At autopsy the parathyroid glands were absent in one child and hypoplastic in the other one. Two twin male siblings presented with similar findings and died at the age of three years. At autopsy their parathyroid glands were fibrotic, and glomerular basement membranes were thickened. This may be the first recorded association of familial nephrosis, nerve deafness, and hypoparathyroidism. The mode of transmission is compatible with autosomal recessive inheritance.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003638:Deafness / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008297:Male; D009404:Nephrotic Syndrome / Q000235:genetics*; D010280:Parathyroid Glands / Q000473:pathology; D000159:Vestibulocochlear Nerve