小结
定义
病史和体格检查
关键诊断因素
- 年龄＜12 个月
- 尿布中的橘红色“沙状”结晶
- 肾结石
- 锥体束征
- 睾丸萎缩
- 男性
- 发育迟缓
- 不自主运动
- 全身肌张力过低
- 自伤行为，通常＜5 岁
- 集中在嘴和手指的自伤行为
- 认知障碍
- 生长延迟
- 运动肌张力障碍
- 阳性家族史
危险因素
- 阳性家族史
诊断性检查
首要检查
- 血清尿酸水平
- 24 小时尿中尿酸排泄
- 次黄嘌呤鸟嘌呤磷酸核糖转移酶 (HPRT) 基因分析
- HPRT 酶活性
需考虑的检查
- 脑部 MRI
治疗流程
所有患者
撰稿人
作者
Jasper E. Visser, MD, PhD
Neurologist
Department of Neurology
Radboud University Nijmegen Medical Center
Nijmegen
The Netherlands
利益声明
JEV has received research grants from The Netherlands Organisation for Scientific Research (NWO), the Association LND Famiglie Italiane Onlus, and the Dutch Brain Foundation to conduct scientific research relevant to this topic.
H. A. Jinnah, MD, PhD
Professor
Departments of Neurology and Human Genetics
Emory University
Atlanta
GA
利益声明
HAJ has served on the Scientific Advisory Boards for the Lesch-Nyhan Syndrome Children's Research Foundation in the US and for Lesch-Nyhan Action in France. He has received grant support from the NIH, the Lesch-Nyhan Syndrome Children's Research Foundation, and Psyadon Pharmaceuticals for research on Lesch-Nyhan disease.
同行评议者
Stephen G. Reich, MD
Professor
Department of Neurology
The University of Maryland School of Medicine
Baltimore
MD
利益声明
SGR is co-author of a study referenced in this topic.
Pavel Seeman, MD, PhD
Associate Professor (Doc)
Head of the DNA Laboratory
Department of Child Neurology
Second School of Medicine
Charles University
Prague
and University Hospital Motol
Prague
Czech Republic
利益声明
PS declares that he has no competing interests.
鉴别诊断
- 脑瘫
- 伴有发育迟缓的疾病
- 年轻时伴肌张力障碍的疾病
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