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
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
危险因素
- 男性（黏多醣贮积症[MPS]II，法布瑞氏症）
- 德系犹太人
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）
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）
治疗流程
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 served on advisory boards, received travel grants, research grants, undertaken clinical trials in association with and provided support for educational activities for Takeda, Sanofi-Genzyme, Amicus, Biomarin, Pfizer/Protalix, Freeline therapeutics, Prevail/Lilly, and AvroBio. 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.
鉴别诊断
- 朗格汉斯细胞组织细胞增生症（2 型和 3 型戈谢病的鉴别诊断）
- 风湿热（法布里病的鉴别诊断）
- 细菌性心内膜炎（法布里病的鉴别诊断）
更多 鉴别诊断指南
- 用于治疗 4A 型黏多糖贮积症的 elosulfase α
- 黏多糖贮积症 Ⅱ 型（亨特综合征）治疗：美国医学遗传学与基因组学学院（ACMG）源自 Delphi 的实践资源
更多 指南
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