BMJ Best Practice
最后审核时间： 七月 2019
最近更新时间： 三月 2019

小结

定义

病史和查体

关键诊断因素

  • NF1 家族史
  • 任何部位的疼痛
  • 神经功能障碍：粗大动作延迟、全身动作失调、学校表现不佳
  • 受损的视力
全部具体信息

危险因素

  • 患有 NF1 的亲代
  • 严重挤压伤
全部具体信息

诊断性检查

首要检查

  • MRI 和/或 CT 扫描
  • PET 扫描
  • 活检
  • 通过基因检测来确认 NF1 突变
全部具体信息

治疗流程

急性

嗜铬细胞瘤

恶性外周神经鞘瘤

疾病持续状态

神经纤维瘤：非皮肤型

皮肤

头痛

神经系统

眼

口腔

骨骼

血管的

胃肠道

造血

心理

妊娠相关

贡献者

作者 查看所有

Professor of Medical Genetics and Cancer Epidemiology

Genomic Medicine

School of Medicine

University of Manchester

Manchester

UK

利益冲突披露
DGE is an author of several studies referenced in this monograph. He has also received a one-off consultancy fee from AstraZeneca.

Professor D. Gareth Evans would like to gratefully acknowledge Dr Vincent M. Riccardi, a previous contributor to this monograph. VMR is an author of several studies referenced in this monograph.

同行评议专家 查看所有

Professor

Department of Genetics

University of Alabama at Birmingham

Birmingham

AL

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

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

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

Clinical Senior Lecturer and Honorary Consultant in Medical Genetics

Institute of Medical Genetics

Yorkhill Hospital

University of Glasgow

Scotland

UK

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

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