[2,8-二羟基腺尿症伴尿石症:附3例报告]。

Zeitschrift fur Urologie und Nephrologie Pub Date : 1990-07-01

D B Leusmann, G Schmidt

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引用次数: 0

摘要

到目前为止，有17例白种人尿石症合并罕见嘌呤代谢紊乱2,8-二羟基腺嘌呤尿症，原因是腺嘌呤磷酸核糖基转移酶活性缺失。首先，一个同卵双胞胎受到折磨(13岁的男孩)。除了一名38岁男子的混合结石含有80%的2,8- dha和20%的草酸钙外，所有结石都由纯2,8- dha组成。对实际文献进行了回顾。

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[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases].

To the now 17 case reports in caucasian patients of an urolithiasis in a rare purine metabolism disorder 2,8-dihydroxyadeninuria due to missing activity of adenine phosphoribosyltransferase 3 further cases are presented. Firstly, a monozygotic twin pair is afflicted (13-year-old boys). All calculi be composed of pure 2,8-DHA, except a mixed calculus in a 38-year-old man containing of 80% 2,8-DHA and 20% calcium oxalate. The actual literature is reviewed.

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Zeitschrift fur Urologie und Nephrologie

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