Uric acid urolithiasis in a boy with partial deficit of the enzyme hypoxanthine-guanine phosphoribosyltransferase

Clinical disorders associated with uric acid urolithiasis are described (familial uric acid urolithiasis, overproduction of uric acid, hyperuricosuria, chronic volume contraction). Diagnosis and treatment of uric acid urolithiasis in 5-year-old boy with partial deficit of hypoxanthine-guanine phosphoribosyltransferase is presented. The author points out that in children with urolithiasis metabolic disturbances should always be considered as a possible cause of urinary caliculi. Thus, many unnecessary complications can be prevented.