Familial hyperuricemia and renal disease

Publisher Website
Google Scholar
Abstract
Information on a familial syndrome of hyperuricemia and renal disease with or without gout was obtained on 33 of 41 blood relatives. Nine had renal disease; abnormalities of the urinary sediments were minimal, and serum uric acid levels were elevated in 7 and were not measured in 2. Hyperuricemia was noted in 3 additional family members without evidence of renal disease. Gouty arthritis (3 patients) did not precede renal disease. One individual had hyperuricosuria. The following erythrocyte purine enzyme levels were normal: adenine phosphoribosyltransferase, hypoxanthine-guanine phosphoribosyltransferase, phosphoribosylpyrophosphate synthetase, adenosine deaminase and purine nucleoside phosphorylase. Renal biopsy specimens showed focal global and segmental sclerosis of glomeruli, occasional hypercellularity, foci of atrophic tubules, chronic interstitial inflammation, and folding and wrinkling of glomerular basement membrane without electron-dense deposits. There were no immunofluorescent abnormalities.