BMJ Best Practice
最后审核时间： 七月 2019
最近更新时间： 五月 2019

小结

定义

病史和查体

关键诊断因素

  • 年龄＜12 个月
  • 阳性家族史
  • 尿布中的橘红色“沙状”结晶
  • 肾结石
全部具体信息

危险因素

  • 阳性家族史
全部具体信息

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
全部具体信息

需要考虑的检查

  • 脑部 MRI
全部具体信息

治疗流程

疾病持续状态

所有患者

贡献者

作者 查看所有

Neurologist

Department of Neurology

Radboud University Nijmegen Medical Center

Nijmegen

The Netherlands

利益冲突披露
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

利益冲突披露
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.

同行评议专家 查看所有

Professor

Department of Neurology

The University of Maryland School of Medicine

Baltimore

MD

利益冲突披露
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

利益冲突披露
PS declares that he has no competing interests.

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