Familial Nephropathy with Hyperuricemia and Gout
作者:
Ernst P. Leumann,
Werner Wegmann,
期刊:
Nephron
(Karger Available online 1983)
卷期:
Volume 34,
issue 1
页码: 51-57
ISSN:1660-8151
年代: 1983
DOI:10.1159/000182979
出版商: S. Karger AG
关键词: Familial nephropathy;Interstitial nephropathy and gout;Familial urate nephropathy;Familial gout and renal failure;Hyperuricemia and gout
数据来源: Karger
摘要:
Chronic interstitial nephropathy with disproportionate hyperuricemia (serum uric acid 10.5–14.8 mg/dl [625–880 µmol/l] at a GFR of 40 ml/min/1.73 m2) was observed in 2 girls and their mother who suffered from gout since the age of 20 years. Urinary excretion of uric acid was normal. Renal biopsies in the 3 patients showed focal tubulointerstitial nephropathy. Absolute values of GFR remained stable in the 2 pediatric patients over a period of 10 years, whereas the older patient required dialysis at the age of 34 years. We speculate that this family suffers from a primary interstitial nephropathy which is accompanied by a subtle defect in tubular excretion of urate. A few similar observations have been reported in literature which suggests that dominantly inherited interstitial nephropathy with hyperuricemia and gout represents a distinct en
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