Abstract
Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood. We report a case of renal pelvis calculi which was dissolved within 10 days of urine alkalinization and hydration.
Original language | English |
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Pages (from-to) | 417-419 |
Number of pages | 3 |
Journal | Urological Research |
Volume | 39 |
Issue number | 5 |
DOIs | |
Publication status | Published - 2011 Oct |
Keywords
- Lesch-Nyhan syndrome
- Stones
- Urine alkalinization
ASJC Scopus subject areas
- Urology