韩冰;陈苗;杨辰;
Multidisciplinary Team for Rare Diseases, Peking Union Medical College Hospital;

• 1:北京协和医院罕见病多学科协作组

摘要(Abstract)：

戈谢病(Gaucher disease,GD)是由于葡萄糖脑苷脂酶基因突变导致的遗传性溶酶体贮积病。当溶酶体中葡萄糖脑苷脂酶活性降低时,造成其底物葡萄糖脑苷脂在肝、脾、骨骼、肺、脑及眼部等器官的巨噬细胞溶酶体中贮积,临床上常出现肝脾肿大、骨痛、贫血、血小板下降、神经系统症状,也可出现其他系统受累表现。由于本病发病率低、患者多系统受累、临床表现多样,全面的评估和诊治需多学科团队协作。为促进GD诊疗的规范化,北京协和医院依托罕见病多学科会诊团队,邀请本病可能累及的各系统相关临床专家及参与诊断的平台科室专家,结合GD的临床表现及诊治进展,形成该病多学科诊疗专家共识,以期提高诊疗效率,更好地对患者进行综合诊治管理。
Gaucher disease(GD) is a rare hereditary lysosomal disorder caused by mutations in the glucocerebrosidase gene. Due to the reduciton of lysosomal enzyme β-glucocerebrosidase activity, the substrate of glucocerebroside is stored in the lysosomes of macrophages in the liver, spleen, bone, brain, and eyes. Patients with GD usually present with liver and spleen enlargement, bone pain, anemia, thrombocytopenia, neurological symptoms, and other systemic symptoms. Multidisciplinary teamwork is required for the diagnosis and effective treatment of the disease due to its rareness and diverse clinical manifestations. After discussing with experts from the related departments, we wrote the consensus based on the multidisciplinary consultation and the new progress in this area, in order to provide a more comprehensive understanding of this rare and difficult disease.

关键词(KeyWords)： 戈谢病;多学科协作;多系统受累;酶替代疗法
Gaucher disease;multidisciplinary team;multi-system involvement;enzyme replacement therapy

Abstract:

Keywords:

基金项目(Foundation): 国家重点研发计划(2016YFC0901500);; 中国医学科学院罕见病研究中心资助项目(2016ZX3101744);中国医学科学院医学与健康科技创新工程(2016-12M-1-002)

作者(Author): 韩冰;陈苗;杨辰;
Multidisciplinary Team for Rare Diseases, Peking Union Medical College Hospital;

Email:

DOI:

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