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摘要: 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。Abstract: 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.本共识编写组成员(按姓氏汉语拼音排序)：陈丽萌(北京协和医院肾内科)、陈苗(北京协和医院血液内科)、陈伟(北京协和医院临床营养科)、韩冰(北京协和医院血液内科)、黄慧(北京协和医院呼吸与危重症医学科)、霍力(北京协和医院核医学科)、金丽日(北京协和医院神经科)、蒋显勇(北京协和医院血液内科)、李景南(北京协和医院消化内科)、李融融(北京协和医院临床营养科)、刘淑芬(北京协和医院物理医学康复科)、刘鑫(北京协和医院药剂科)、刘雅萍(中国医学科学院基础医学研究所医学遗传学系)、刘子文(北京协和医院基本外科)、梅丹(北京协和医院药剂科)、邱正庆(北京协和医院儿科)、睢瑞芳(北京协和医院眼科)、唐湘凤(解放军总医院第六医学中心儿科)、吴南(北京协和医院骨科)、吴志宏(北京协和医院骨科)、王凤丹(北京协和医院放射科)、王欧(北京协和医院内分泌科)、王轶(北京协和医院耳鼻喉科)、杨辰(北京协和医院血液内科)、于康(北京协和医院临床营养科)、张波(北京协和医院药剂科)、张磊(北京协和医院肾内科)、张为民(北京协和医院医研中心临床遗传学实验室)、仉建国(北京协和医院骨科)、朱慧娟(北京协和医院内分泌科)、朱燕林(北京协和医院心内科)执笔人：韩冰、陈苗、杨辰利益冲突： 无
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图 3 1例男性戈谢病患者，42岁，双侧股骨MRI示骨髓T1WI(A)、T2WI(B)高信号降低，脂肪抑制T2WI(C)可见骨髓为弥漫高低混杂信号，左侧股骨头塌陷，右侧股骨头及股骨颈可见多发骨梗死(箭头)
表 1 股骨BMB评分
分类 BMB分值 MRI信号* T2高信号 2 T2轻度高信号 1 T2等信号 0 T2轻度低信号 1 T2低信号 2 T2混杂信号 3 T1轻度高信号或等信号 0 T1轻度低信号 1 T1低信号 2 受累部位 骨干 1 近端骨骺 2 远端骨骺 3 BMB：骨髓负荷，分值越高，代表骨髓受累越重; *与皮下脂肪比较 
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