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[一例右输尿管结石合并腺嘌呤磷酸核糖转移酶完全缺乏症]

[A case of right ureteral stone with complete deficiency of adenine phosphoribosyltransferase].

作者信息

Ito T, Sugimoto T, Maekawa M, Horii A, Yasumoto R

出版信息

Hinyokika Kiyo. 1985 Aug;31(8):1453-8.

PMID:4083207
Abstract

We report a case of a 34-year-old male, who had urinary tract calculus, caused by complete deficiency of adenine phosphoribosyltransferase. Ureterolithotomy was performed on February 28, 1983. Infrared spectroanalysis revealed a 2,8-dihydroxyadenine calculus. APRT activity was less than 1% of the normal level, and it was found to be complete deficiency of APRT. Since the operation, 300 mg/day of allopurinol is being administered without any sign of recurrence.

摘要

我们报告一例34岁男性,因腺嘌呤磷酸核糖转移酶完全缺乏导致尿路结石。1983年2月28日进行了输尿管取石术。红外光谱分析显示为2,8 - 二羟基腺嘌呤结石。腺嘌呤磷酸核糖转移酶活性低于正常水平的1%,被发现是腺嘌呤磷酸核糖转移酶完全缺乏。自手术以来,每天给予300毫克别嘌呤醇,未见复发迹象。

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