一名两个月大的儿童出现急性肾衰竭和痛风，其次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）基因第3外显子有两个碱基的新缺失，存在HPRT缺乏症。

HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.

作者信息

Zamora Alfonso, Escárcega Ricardo O, Vazquez Rodrigo, Zamora Antonio, O'Neill J Patrick

机构信息

Department of Pediatrics, Hospital Infantil de México Federico Gómez, México City, México.

出版信息

Arch Med Res. 2007 May;38(4):460-2. doi: 10.1016/j.arcmed.2006.10.015.

DOI:10.1016/j.arcmed.2006.10.015

PMID:17416296

Abstract

We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT).

摘要

我们描述了一名2个月大的儿童，其患有次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症，表现为急性肾衰竭和痛风，但其智力和运动发育与其年龄相符。该患者被诊断为莱施-奈恩病，并显示出一种新的突变，即HPRT基因外显子3中两个碱基的缺失（c.269-270delAT）。