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[两名患有2,8 - 二羟基腺嘌呤尿路结石的兄弟姐妹]

[Two siblings with 2,8-dihydroxyadenine urolithiasis].

作者信息

Kambayashi T, Nakanishi T, Suzuki K, Fujita K, Tajima A, Kawabe K

机构信息

Department of Urology, Iwata Municipal Hospital.

出版信息

Hinyokika Kiyo. 1994 Dec;40(12):1097-101.

PMID:7863862
Abstract

We treated two children with 2,8-dihydroxyadenine urolithiasis for over 7 years. The male prepositus was admitted to the hospital because of anuria when he was 10 months old. Bilateral urinary stones had caused the anuria. The stones were 2,8-dihydroxyadenine and his APRT activity was low. He has been treated with about 5.0 mg/kg/day of allopurinol without purine diet restriction. His sister, 3 years old at that time, also was found to have a renal stone. She has been treated with about 3.3 mg/kg/day of allopurinol without restricting purine. The allopurinol therapy without purine-restriction resulted in normal growth of both children with neither the recurrence of stone nor renal impairment.

摘要

我们对两名患有2,8 - 二羟基腺嘌呤尿路结石的儿童进行了7年多的治疗。首例男性患儿10个月大时因无尿入院。双侧尿路结石导致了无尿。结石成分是2,8 - 二羟基腺嘌呤,其腺嘌呤磷酸核糖转移酶(APRT)活性较低。他一直接受约5.0毫克/千克/天的别嘌醇治疗,且未限制嘌呤饮食。他当时3岁的妹妹也被发现患有肾结石。她接受了约3.3毫克/千克/天的别嘌醇治疗,同样未限制嘌呤摄入。不限制嘌呤的别嘌醇治疗使两名儿童均正常生长,既无结石复发也无肾功能损害。

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