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 |