常见遗传性溶酶体贮积病

最后审阅: 28 四月 2022
最后更新: 26 十月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 家族史
  • 儿童时期发作(MPS,庞贝病,法布瑞氏症,A型尼曼皮克症)
  • 青少年时期发作(法布里病、庞贝病、1 型和 3 型戈谢病、黏多糖贮积症、B 型和 C 型尼曼-皮克病)
  • 成人期发作(法布瑞氏症,高歇氏病1型,庞贝病)
  • 肝大和/或脾大
  • 听觉过敏
  • 肾衰史
  • 皮疹/皮肤损伤
  • 头围大
  • 黄斑'樱桃红斑'的检眼镜检查
  • 检眼镜检查显示视神经萎缩或色素性视网膜炎
  • 检眼镜检查角膜浑浊
  • 疲劳
更多 关键诊断因素

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
  • 渐进性痴呆和共济失调或步态障碍
  • 生长迟缓
  • 关节挛缩
  • 抑郁症
  • 骨骼异常包括脊椎驼背
  • 脑积水
  • 反复呼吸道感染史
  • 精神病
  • 运动障碍
  • 早发性卒中/短暂性脑缺血发作
  • 心脏增大
  • 心脏瓣膜病
其他诊断因素

危险因素

  • 男性(黏多醣贮积症[MPS]II,法布瑞氏症)
  • 德系犹太人
更多 危险因素

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)
更多 首要检查

需考虑的检查

  • 心电图 (ECG)
  • 超声心动图
  • 肺功能检查 (PFT)
  • 骨髓活检
  • 肌肉活检
  • 增大器官的CT/MRI(高歇氏病)
  • 超声心动图/超声波/核磁共振(法布瑞氏症)
  • CT/x光(黏多糖贮积症)
更多 需考虑的检查

治疗流程

持续性治疗

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

庞贝病

泰-萨二氏病

Niemann-Pick 病

撰稿人

作者

Atul B. Mehta, MA, MB BChir, MD, FRCP, FRCPath

Consultant Haematologist

Royal Free Hospital

Professor in Haematology

University College London

London

UK

利益声明

ABM has received research funding, travel grants for educational meetings, and consultancy fees from Sanofi Genzyme, Takeda, Lilly, Actelion, Biomarin, Protalix, Pfizer, Freeline, and Amicus. He is also an author of a number of references cited in this topic.

同行评议者

Gregory M. Pastores, MD

Associate Professor

Departments of Neurology and Pediatrics

NYU School of Medicine

New York

NY

利益声明

GMP declares that he has no competing interests.

Uma Ramaswami, MD, FRCPCH

Consultant Paediatrician

Paediatric Metabolic Unit

Cambridge University Hospitals

Cambridge

UK

利益声明

UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.

Michael Beck, MD

Head of Department

Children's Hospital

University of Mainz

Mainz

Germany

利益声明

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.

Elmer V. Villanueva, MD, ScM, FRIPH

Associate Professor of Public Health

Director of Research

Gippsland Medical School

Monash University

Churchill

Australia

利益声明

EVV declares that he has no competing interests.

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