| Literature DB >> 21331772 |
Mi Mi Oh1, Byeong Kuk Ham, Seok Ho Kang, Jae Hyun Bae, Je Jong Kim, Ki Hwan Yoo, Duck Ki Yoon, Du Geon Moon.
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.Entities:
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Year: 2011 PMID: 21331772 DOI: 10.1007/s00240-011-0364-z
Source DB: PubMed Journal: Urol Res ISSN: 0300-5623