Abstract
We report a family with nephronophthisis-medullary cystic disease complex (NPH-MCD). Case 1 was a 12-year-old girl with normal growth and development, who showed anemia and proteinuria at a health screening. A renal biopsy specimen showed chronic tubulointerstitial nephritis. Her renal function progressively decreased, and maintenance hemodialysis was started in January 1989. Case 2, the 29-year-old elder brother of case 1, had had anemia for 9 years and visited our hospital with symptoms of a common cold. Examination showed that he had chronic renal failure. A renal biopsy specimen showed chronic tublointerstitial nephritis. Case 3, a 27-year-old man, a first cousin of case 1, had had anemia for 1 year and was admitted to our hospital because of acute cardiac failure associated with chronic renal failure. Hemodialysis was started immediately. Two other people in the same family had chronic renal failure. Typing of the histocompatibility leukocyte antigen (HLA) was performed in four members of the family, but the results showed that there was no involvement of HLA in the pathogenesis of NPH-MCD.
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