PRATAP S. AVASTHI, M.D.; DALE G. ERICKSON, M.D.; KENNETH D. GARDNER, M.D., F.A.C.P.
Nine of 81 members of two families were found to have renal problems. Three patients in one family had renal-retinal dysplasia with probable recessive inheritance. Of the 6 patients in the second family, one received a kidney transplant from his brother who initially had no detectable renal abnormality but later developed renal failure. In this family, the mode of inheritance seems to be dominant. Hereditary renal-retinal dysplasia differs from medullary cystic disease and nephronophthisis in its pattern of uniformly recessive inheritance and its accompaniment by retinitis pigmentosa. Because genetic considerations have important implications in selection of donors for renal transplant, these entities should be considered distinct despite the similarities in their clinical and pathologic features.
AVASTHI PS, ERICKSON DG, GARDNER KD. Hereditary Renal-Retinal Dysplasia and the Medullary Cystic Disease-Nephronophthisis Complex. Ann Intern Med. 1976;84:157–161. doi: https://doi.org/10.7326/0003-4819-84-2-157
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Published: Ann Intern Med. 1976;84(2):157-161.
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