法布雷病合并皮肌炎一例  

A Case Report of Fabry Disease Associated with Dermatomyositis

作　　者：周怡[1] 吴婵媛[2] 程康安[3] 王亮[3] ZHOU Yi;WU Chanyuan;CHENG Kang′an;WANG Liang(Department of Cardiology,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100037,China;Department of Rheumatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院、国家心血管病中心、阜外医院心内科,北京100037 [2]中国医学科学院北京协和医院免疫内科,北京100730 [3]中国医学科学院北京协和医院心内科,北京100730

出　　处：《罕见病研究》2023年第1期110-114,共5页Journal of Rare Diseases

基　　金：中央高水平医院临床科研业务费(2022-PUMCH-A-181)。

摘　　要：法布雷病是一种X染色体伴性遗传的溶酶体贮积病,其发病机制为编码α-半乳糖苷酶A(α-Gal A)的基因发生突变导致α-Gal A功能缺失,进而导致未降解的神经酰胺三己糖苷(Gb-3)及其他鞘糖脂在细胞溶酶体中堆积,造成组织器官的功能障碍。本文报道了一例法布雷病合并皮肌炎患者的临床特点。该患者男性,61岁,临床表现为间断黑矇,合并四肢乏力及活动后憋喘。实验室检查提示α-Gal A活性下降,肌炎抗体谱阳性,故确诊法布雷病合并皮肌炎。同时本文回顾了相关文献,发现法布雷病患者合并自身免疫性疾病的情况十分罕见,但是法布雷病患者出现自身免疫抗体阳性的情况并不罕见,提示法布雷病与自身免疫性疾病可能在发病机制上存在关联性。Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A(α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide(Gb-3) and other glycosphingolipids in the lysosome of cells, resulting in the dysfunction of relevant tissues and organs. We report the clinical characteristics of a case of Fabry disease with dermatomyositis. The patient, a 61-year-old male, presented with intermittent amaurosis, limb weakness and dyspnea on exertion. Based on the low α-Gal A activity and positive anti-myositis antibodies, diagnosis of Fabry disease with dermatomyositis were confirmed. We reviewed the relevant literature and found that co-existence of Fabry disease and autoimmune diseases was very rare, but it is not rare for patients with Fabry disease to have some autoimmune antibody positive, suggesting that Fabry disease and autoimmune diseases may be related in pathogenesis.

关 键 词：法布雷病 皮肌炎 自身免疫抗体 

分 类 号：R593.26[医药卫生—内科学] R596.1[医药卫生—临床医学]