Oh Mi Mi, Ham Byeong Kuk, Kang Seok Ho, Bae Jae Hyun, Kim Je Jong, Yoo Ki Hwan, Yoon Duck Ki, Moon Du Geon
Department of Urology, Korea University Hospital, 80, Guro-dong, Guro-ku, Seoul 152-703, Republic of Korea.
Urol Res. 2011 Oct;39(5):417-9. doi: 10.1007/s00240-011-0364-z. Epub 2011 Feb 18.
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.
莱施-奈恩综合征是一种罕见的嘌呤代谢性X连锁疾病,由次黄嘌呤-鸟嘌呤磷酸核糖转移酶(HPRT)基因突变引起,可导致明显的高尿酸血症和高尿酸尿症,在儿童早期出现痛风性关节炎和尿酸结石病的症状。我们报告一例肾盂结石病例,该结石在尿液碱化和水化治疗10天内溶解。