Article
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
Hinyokika kiyo. Acta urologica Japonica - 1 May 1992
Katsuoka Y, Miyakita H, Shiramizu M, Iwagaki H, Ikeda T
Abstract excerpt
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes,...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Child
- Family Health
- Genotype
- Humans
- Male
- Urinary Calculi