A family with nephronophthisis – medullary cystic disease complex |
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Authors: | M Arakawa Jun Chiba Yasuhiko Sasaki Mituyoshi Narita Hiroshi Satou Takao Saitou |
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Institution: | (1) Department of Internal Medicine, Ishinomaki Red Cross Hospital, 1-7-10 Yoshino-cho, Ishinomaki, Miyagi 986-0015, Japan Tel. +81-225-95-4131; Fax +81-225-94-8019, JP;(2) Narita Hospital, Iinokawa, Japan, JP;(3) Second Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan, JP |
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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.
Received: May 6, 1998 / Accepted: October 2, 1998 |
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Keywords: | Nephronophthisis medullary cystic disease complex HLA HLA associated disease |
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