title: Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
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.
authors.affiliation: Department of Urology, Korea University Hospital, 80, Guro-dong, Guro-ku, Seoul 152-703, Republic of Korea.
authors.forename: Mi Mi
authors.initials: MM
authors.lastname: Oh
authors.forename: Byeong Kuk
authors.initials: BK
authors.lastname: Ham
authors.forename: Seok Ho
authors.initials: SH
authors.lastname: Kang
authors.forename: Jae Hyun
authors.initials: JH
authors.lastname: Bae
authors.forename: Je Jong
authors.initials: JJ
authors.lastname: Kim
authors.forename: Ki Hwan
authors.initials: KH
authors.lastname: Yoo
authors.forename: Duck Ki
authors.initials: DK
authors.lastname: Yoon
authors.forename: Du Geon
authors.initials: du G
authors.lastname: Moon
mesh_terms: D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D005440:Fluid Therapy; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007669:Kidney Calculi / Q000000981:diagnostic imaging / Q000209:etiology* / Q000628:therapy* / Q000652:urine; D007682:Kidney Pelvis; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D014057:Tomography, X-Ray Computed; D014556:Urine / Q000737:chemistry
chemical_list: D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase