一例腺嘌呤磷酸核糖转移酶缺乏症（APRTJ/APRTQ0）复合杂合子导致2,8-二羟基腺嘌呤尿路结石：日本2,8-二羟基腺嘌呤结石报告病例综述

A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.

作者信息

Takeuchi H, Kaneko Y, Fujita J, Yoshida O

机构信息

Department of Urology, Faculty of Medicine, Kyoto University, Japan.

出版信息

J Urol. 1993 Apr;149(4):824-6. doi: 10.1016/s0022-5347(17)36222-5.

DOI:10.1016/s0022-5347(17)36222-5

PMID:8455250

Abstract

We report a case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis. Polymerase chain reaction-single strand conformation polymorphism analysis demonstrated that APRTJ and APRTQ0 alleles from the father and mother, respectively, had been transmitted to the patient. We also reviewed the literature regarding Japanese patients with 2,8-dihydroxyadenine urolithiasis. There seemed to be little difference in clinical course between type 2 homozygotes and compound heterozygotes. However, hemolysate APRT activities of compound heterozygotes were lower than those of type 2 homozygotes.

摘要

我们报告了一例腺嘌呤磷酸核糖转移酶缺乏症（APRTJ/APRTQ0）的复合杂合子病例，该病例导致了2,8 - 二羟基腺嘌呤尿路结石。聚合酶链反应 - 单链构象多态性分析表明，来自父亲和母亲的APRTJ和APRTQ0等位基因分别传递给了患者。我们还回顾了关于日本2,8 - 二羟基腺嘌呤尿路结石患者的文献。2型纯合子和复合杂合子在临床病程上似乎没有太大差异。然而，复合杂合子的溶血产物APRT活性低于2型纯合子。