腺嘌呤磷酸核糖转移酶部分缺陷导致的2,8 - 二羟基腺嘌呤尿石症：一例报告
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
作者信息
Katsuoka Y, Miyakita H, Shiramizu M, Iwagaki H, Ikeda T
机构信息
Department of Urology, Tokai University School of Medicine, Isehara City.
出版信息
Hinyokika Kiyo. 1992 May;38(5):573-7.
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes, and who exhibits the type II phenotype designated APRT*J (Japanese type).
导致因不溶性物质经尿液排泄而继发尿石症的遗传性代谢疾病很少见，但常表现为肾功能不全引起的尿路梗阻。我们在此报告一例与2,8 - 二羟基腺嘌呤尿石症相关的部分腺嘌呤磷酸核糖转移酶缺乏症病例。在家庭成员中，先证者及其弟弟是APRT基因缺陷的纯合子，表现为II型表型，称为APRT*J（日本型）。
Zotero 插件