2,8 - 二羟基腺嘌呤结石形成的家系研究：两例腺嘌呤磷酸核糖转移酶缺乏症（APRTJ/APRTQ0）复合杂合子病例报告

Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0).

作者信息

Suzuki K, Kobayashi S, Kawamura K, Kuhara T, Tsugawa R

机构信息

Department of Urology, Kanazawa Medical University, Ishikawa, Japan.

出版信息

Int J Urol. 1997 May;4(3):304-6. doi: 10.1111/j.1442-2042.1997.tb00195.x.

DOI:10.1111/j.1442-2042.1997.tb00195.x

PMID:9255672

Abstract

The family members of 2 formers of 2,8-dihydroxyadenine stones were examined for history, adenine phosphoribosyltransferase (APRT) activity, genotype, urinary sediment, and urinary constituents. The patients' father showed a genotype of APRT1/APRTQ0, and their mother showed APRT1/APRTJ. Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0), and APRT activities were 4.5% and 4.0% of normal, respectively. 2,8-Dihydroxyadenine crystals could be seen in the urinary sediment. Treatment with allopurinol completely stopped new stone formation for 5 years in patient 1.

摘要

对2例2,8 - 二羟基腺嘌呤结石患者的家庭成员进行了病史、腺嘌呤磷酸核糖转移酶（APRT）活性、基因型、尿沉渣及尿成分检查。患者的父亲基因型为APRT1/APRTQ0，母亲基因型为APRT1/APRTJ。患者1和患者2为腺嘌呤磷酸核糖转移酶缺乏症的复合杂合子（APRTJ/APRTQ0），APRT活性分别为正常水平的4.5%和4.0%。在尿沉渣中可见2,8 - 二羟基腺嘌呤结晶。患者1使用别嘌醇治疗5年，新结石形成完全停止。