BMJ Best Practice
最后审核时间： 七月 2019
最近更新时间： 六月 2019

小结

定义

病史和查体

关键诊断因素

  • 存在的危险因素
  • 家族史
  • 儿童时期发作（MPS，Pompe 病，法布瑞氏症，A型尼曼皮克症）
  • 青少年时期发作（法布瑞氏症、Pompe 病、高歇氏病1型和3型、MPS、尼曼皮克症B型和C型）
全部具体信息

其他诊断因素

  • 神经发育延迟
  • 听力损伤/突发性耳聋
  • 检眼镜检查白内障
  • 眼运动障碍
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危险因素

  • 男性（黏多醣贮积症[MPS]II，法布瑞氏症）
  • 德系犹太人
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诊断性检查

首要检查

  • 酶测定
  • 底物化验
  • DNA 分析
  • 全血细胞计数 (FBC）
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需要考虑的检查

  • 心电图 (ECG)
  • 超声心动图
  • 肺功能检查 (PFT)
  • 骨髓活检
全部具体信息

治疗流程

疾病持续状态

1 型高歇氏病

2 型高歇氏病

3型高歇氏病

Fabry 病

黏多糖贮积症

Pompe 病

泰-萨二氏病

Niemann-Pick 病

贡献者

Consultant Haematologist

Royal Free Hospital

Professor in Haematology

University College London

London

UK

利益冲突披露
ABM has received research funding, travel grants for educational meetings, and consultancy fees from Sanofi Genzyme, Shire HGT, Actelion, Biomarin, Protalix, and Amicus. He is also an author of a number of references cited in this topic.

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Associate Professor

Departments of Neurology and Pediatrics

NYU School of Medicine

New York

NY

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

Consultant Paediatrician

Paediatric Metabolic Unit

Cambridge University Hospitals

Cambridge

UK

利益冲突披露
UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.

Head of Department

Children's Hospital

University of Mainz

Mainz

Germany

利益冲突披露
MB has been reimbursed by Shire, the manufacturer of Elaprase and Replagal, for attending several conferences, for running educational programs and for consulting. MB has received honoraria for speaking from Genzyme (the manufacturer of Myozyme, Fabrazyme, Aldurazyme, and Cerezyme) and Actelion (the manufacturer of Zavesca). MB is an author of a number of references cited in this topic.

Associate Professor of Public Health

Director of Research

Gippsland Medical School

Monash University

Churchill

Australia

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

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