乙酰胆碱受体抗体和肌肉特异性酪氨酸激酶抗体双阳性的重症肌无力13例临床分析  

Myasthenia gravis with both acetylcholine receptor antibody and muscle-specific tyrosine kinase antibody positivity: clinical analysis of 13 cases

作　　者：刘举[1] 连志云[1] 陈虹西 石紫燕 冯惠茹 苗晓慧[1] 杜琴 周红雨[1] LIU Ju;LIAN Zhiyun;CHEN Hongxi;SHI Ziyan;FENG Huiru;MIAO Xiaohui;DU Qin;ZHOU Hongyu(Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China)

机构地区：[1]四川大学华西医院神经内科,成都610041

出　　处：《华西医学》2018年第6期696-702,共7页West China Medical Journal

基　　金：国家自然科学基金(81271321)

摘　　要：目的总结乙酰胆碱受体抗体(acetylcholine receptor antibody,ACh RAb)和肌肉特异性酪氨酸激酶抗体(muscle-specific tyrosine kinase antibody,Mu SKAb)双阳性的重症肌无力(myasthenia gravis,MG)患者的临床特点。方法通过检索Pub Med、Web of Science、Embase和中国知网数据库(检索时限均从建库至2016年11月),搜集国内外病例报告,结合四川大学华西医院神经内科病例,回顾性分析ACh RAb和Mu SKAb双阳性MG患者的临床资料。结果共纳入ACh RAb和Mu SKAb双阳性MG患者13例,其中男1例,女12例;发病年龄平均(31.07±24.77)岁。其中10例双阳性MG患者病程中进展加重,出现严重的咽喉部肌肉受累、呼吸困难以及颈部无力,6例出现肌无力危象。11例患者有胸腺检查记录,其中4例为胸腺增生,1例为胸腺瘤。11例双阳性患者胆碱酯酶抑制剂无效或疗效差,而血浆置换(3/3)、利妥昔单抗(1/1)及激素(7/12)疗效显著,其他免疫抑制剂及免疫球蛋白有一定疗效,7例行胸腺切除术双阳性患者中5例术后症状显著或部分改善。结论较单一Mu SKAb阳性者,ACh RAb和Mu SKAb双阳性MG患者病情可能更严重,更易出现肌无力危象,胸腺增生性病变发生率较高,胸腺切除术可能有效。Objective To explore the clinical features of myasthenia gravis（MG） harboring both acetylcholine receptor antibody（ACh RAb） and muscle-specific tyrosine kinase antibody（Mu SKAb） positivity. Methods We searched Pub Med, Web of Science, Embase and China National Knowledge Infrastructure databases（from inception to November2016）, to collect the case reports of MG with both ACh RAb and Mu SKAb positivity. Along with one case discovered in Department of Neurology, West China Hospital, the clinical data of the cases were retrospectively analyzed. Results A total of 13 double-seropositive MG patients were enrolled in this study, demonstrating a marked female predominance（including 1 male and 12 females） and a younger age at onset [（31.07±24.77） years]. During the disease course, 10 of the included patients presented severe bulbar involvement, dyspnea and neck weakness, with myasthenic crisis in6 individuals. Among the 11 patients with detailed records, abnormal thymus glands comprised 4 thymus hyperplasia and one thymoma. While the response to oral pyridostigmine was unsatisfactory in 11 double-seropositive MG patients,ranging from mild benefit to overt intolerance; the patients treated with plasma exchange（3/3）, rituximab（1/1） or corticosteroid（7/12） improved dramatically, with other immumosuppressants and intravenous immunoglobulin partially responsive. Moreover, 5 patients undergoing thymectomy improved markedly or partially. Conclusions Compared with MG patients with Mu SKAb positivity merely, the condition of the double-seropositive MG patients seem to be more severe and further inclined to myasthenic crisis. The incidence of abnormal thymus, such as thymus hyperplasia, is higher.Thymectomy may be an effective treatment for such patients.

关 键 词：重症肌无力 乙酰胆碱受体抗体 肌肉特异性酪氨酸激酶抗体 临床分析 

分 类 号：R746.1[医药卫生—神经病学与精神病学]