日本胱氨酸尿症的发病率。

The incidence of cystinuria in Japan.

作者信息

Ito H, Murakami M, Miyauchi T, Mori I, Yamaguchi K, Usui T, Shimazaki J

出版信息

J Urol. 1983 May;129(5):1012-4. doi: 10.1016/s0022-5347(17)52514-8.

Abstract

Screening tests for cystinuria were done in approximately 110,000 children and students. The rates of discovery were chemical cystinuria 920 to 1, cystine crystalluria 16,000 to 1 and homozygous cystinuria 18,000 to 1 (8,000 to 1 if a correction was made by the rates of performances of secondary screening and urinary amino acid assay). No stone formation was observed in a 7-year followup of 6 patients considered to be homozygotes. A correlation was observed between urinary cystine and urinary uric acid levels in 39 cases of chemical cystinuria.

摘要

对约110,000名儿童和学生进行了胱氨酸尿症筛查测试。发现率为化学性胱氨酸尿症920比1，胱氨酸结晶尿症16,000比1，纯合子胱氨酸尿症18,000比1（如果根据二次筛查和尿氨基酸测定的执行率进行校正，则为8,000比1）。在对6名被认为是纯合子的患者进行的7年随访中，未观察到结石形成。在39例化学性胱氨酸尿症病例中，观察到尿胱氨酸水平与尿酸水平之间存在相关性。