Familial nephrosis, nerve deafness, andhypoparathyroidism
AY Barakat, JB D'Albora, MM Martin, PA Jose - The Journal of pediatrics, 1977 - Elsevier
AY Barakat, JB D'Albora, MM Martin, PA Jose
The Journal of pediatrics, 1977•ElsevierTwo male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are
described. Eachchild, 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 …
described. Eachchild, 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 …
Two male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are described. Eachchild, 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.
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