Ontology type: schema:ScholarlyArticle
1997-08-01
AUTHORSHiroaki Oda, Noriaki Yorioka, Sayuri Okushin, Chie Nakamura, Yukiteru Asakimori, Yoshiko Harada, Michio Yamakido, Takashi Taguchi
ABSTRACTA 25-year-old man developed renal dysfunction and his family showed autosomal dominant inheritance of endstage renal disease. The proband had trace albuminuria and a slightly raised serum creatinine level. Renal biopsy showed tubulointerstitial nephritis, which was compatible with the nephronophthisis-medullary cystic disease complex (N-MCD). His older brother (aged 31 years) had progressed to endstage renal failure by the age of 23 years after renal biopsy revealed N-MCD when he was 20 years old. Human leukocyte-associated (HLA) antigen typing was performed for the proband, the older brother, the mother (who showed endstage renal failure at the age of 50 years), and the sister (who showed no signs of renal disease at the age of 28 years). The HLA loci A24(9), B62(15), and DR2 were common to all 4 family members, while Cw1 was only found in the 3 with renal disease. These findings suggested the possible participation of the Cw1 locus in autosomal dominant N-MCD. More... »
PAGES234-236
http://scigraph.springernature.com/pub.10.1007/bf02480701
DOIhttp://dx.doi.org/10.1007/bf02480701
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