title: Newly discovered familial juvenile gouty nephropathy in a Japanese family.
abstract: Our attention was initially called to 2 young Japanese sisters with gout and renal insufficiency, which led to an investigation of members of their family with similar conditions. One sister, a 26-year-old woman who had suffered from polyuria since infancy, suffered from gout and renal insufficiency. Her younger sister also had a history of polyuria, hyperuricemia, and moderately reduced renal function. Their urinary uric acid levels were reduced but purine enzyme activities in the erythrocytes were normal. A renal biopsy specimen from the younger sister showed severe interstitial fibrosis with tubular atrophy. An investigation of the family revealed an autosomal dominant transmission pattern. We believe these are new familial cases of juvenile gouty nephropathy found in a Japanese family.
mesh_terms: D000328:Adult; D001706:Biopsy; D005192:Family Health; D005260:Female; D006073:Gout / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007564:Japan; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D051437:Renal Insufficiency / Q000150:complications* / Q000235:genetics* / Q000473:pathology