尿液碱化可能足以治疗与莱施-奈恩综合征相关的双侧肾盂结石。

Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.

作者信息

Oh Mi Mi, Ham Byeong Kuk, Kang Seok Ho, Bae Jae Hyun, Kim Je Jong, Yoo Ki Hwan, Yoon Duck Ki, Moon Du Geon

机构信息

Department of Urology, Korea University Hospital, 80, Guro-dong, Guro-ku, Seoul 152-703, Republic of Korea.

出版信息

Urol Res. 2011 Oct;39(5):417-9. doi: 10.1007/s00240-011-0364-z. Epub 2011 Feb 18.

DOI:10.1007/s00240-011-0364-z

PMID:21331772

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.

摘要

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。