最近审阅: 4 十一月 2020
最近更新: 06 三月 2018

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
  • 生长迟缓
  • 运动肌张力障碍
  • 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
更多 首要检查

治疗流程

进行中

撰稿人

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) and the Dutch Brain Foundation to conduct scientific research relevant to this topic.

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.

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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 monograph.

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.

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