Author/Editor     Gregorič, A
Title     Uratna urolitiaza pri dečku z delnim pomanjkanjem encima hipoksantin-gvanin fosforiboziltransferaze
Translated title     Uric acid urolithiasis in a boy with partial deficit of the enzyme hypoxanthine-guanine phosphoribosyltransferase
Type     članek
Source     Med Razgl
Vol. and No.     Letnik 30, št. 3
Publication year     1991
Volume     str. 439-46
Language     slo
Abstract     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 phos phoribosyltransferase is presented. The author points out that in children with urolithiasis metabolic disturbances should always be considered as a possible cause of urinary calculi. Thus, many unnecessary complications can be prevented.
Descriptors     URINARY CALCULI
HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE
METABOLISM, INBORN ERRORS
URIC ACID