家族性重症肌无力的临床及遗传易患性  

Clinical features and genetic susceptibility of the familial myasthenia gravis

作　　者：王海萍[1] 王淑辉[1] 丛志强[1] 

机构地区：[1]青岛大学医学院附属医院神经内科,266003

出　　处：《中华神经科杂志》2005年第8期510-512,共3页Chinese Journal of Neurology

摘　　要：目的探讨家族性重症肌无力(FMG)患者的临床及遗传易患性特点。方法回顾性分析了1977—2003年间的47例FMG患者的临床资料,同时运用聚合酶链反应序列特异性引物(PCRSSCP)对中国北方地区15例FMG患者、36例散发性重症肌无力(SMG)患者和47名健康对照的人类白细胞抗原(HLA)DQA1基因多态性进行分析。结果SMG与FMG一样也属于自身免疫病,对免疫抑制剂反应良好,47例中显著改善11例(23.4%),药物缓解14例(29.8%),完全缓解20例(42.6%);FMG多数发生在同胞和相连的2代家庭成员之间(不符合典型孟德尔式遗传方式),无肯定性别倾向;同一家系的患者,发病年龄、临床表现基本相同。与SMG相比,FMG尤其是Osserman分型属眼型的患者均有DQA10301频率增高(分别为40.0%和19.4%),差异有统计学意义(P<0.05)。结论与SMG相比,FMG有其独特的临床特点;DQA10301是家族性,尤其是眼型重症肌无力的易患基因,提示FMG与SMG有着不同的免疫遗传机制。Objective To describe the clinical features and genetic susceptibility of the familial myasthenia gravis （FMG） patients. Methods The clinical data of 47 FMG patients and 2953 sporadic myasthenia gravis （SMG） patients from 1977 to 2003 were analyzed retrospectively, and 15 FMG patients, 36 SMG patients and 47 healthy controls were investigated for human leukocyte antigen （ HLA ） -DQA1 genotyping by polymerase chain reaction-sequence specific primers. Results FMG was an autoimmune disorder disease and immunosuppressive therapy was as highly effective in FMG as in SMG. In all patients, 11（23. 4% ） cases improved significantly, 14（29.8% ） cases relieved with only 5 mg prednidone, and 20 （42. 6% ） cases relieved completely. Most FMG occurred in siblings and familial members within 2 generations, and no sexual difference was found. These suggested it should be atypical Mendel＇ s rules. Onset and clinical features of patients within the same family often had little difference. As compared with the SMG patients, the frequence of DQA1 ＊ 0301 allele was higher in FMG patients, especially in the ocular form, and the differences had statistical significance （40.0% vs 19.4%, P〈 0.05）. Conclusions Compared with the SMG patients, DQA1 ＊ 0301 should be the familial susceptible gene in FMG patients, especially in the ocular form. This suggested that there should exist different mechanisms of immune and heredity in the FMG and SMG patients.

关 键 词：重症肌无力 疾病遗传易感性 多态现象(遗传学) HLA-DQ抗原 眼型重症肌无力 遗传易患性 临床资料 聚合酶链反应-序列特异性引物 家族性 人类白细胞抗原 

分 类 号：R746.1[医药卫生—神经病学与精神病学]