发作性睡病免疫学机制.PDFVIP

中国现代神经疾病杂志2013 年5 月第13卷第5 期 Chin J Contemp Neurol Neurosurg, May 2013, Vol. 13, No. 5 · 377 · ·专题讲座· 发作性睡病免疫学机制 吴惠涓 杨涛 朱嫣 杨洋 赵忠新 【摘要】 发作性睡病是一种严重的睡眠障碍，其中猝倒型患者下丘脑大量Hypocretin（Hcrt）/Orexin 能神经元缺失可能是自身免疫性因素选择性破坏下丘脑Hcrt 能神经元所致。流行病学调查资料显示， 发作性睡病发病率升高与甲型H1N1流感病毒感染、疫苗接种、化脓性链球菌感染密切相关；而且遗传 因素（HLA⁃DQB1*0602、P2RY11基因多态性）和自身免疫性因素（TCR⁃α基因多态性、肿瘤坏死因子⁃α）亦 参与其中。大剂量静脉滴注免疫球蛋白可暂时改善猝倒发作症状，但针对下丘脑Hcrt 能神经元自身抗 体或T 细胞反应的治疗措施尚无确凿证据。随着对发作性睡病病因学研究的深入，其免疫学研究将是 未来的热点领域。 【关键词】 发作性睡病； 免疫系统疾病； 综述 Researchprogressofimmunologicmechanismofnarcolepsy WU Hui⁃juan, YANG Tao, ZHU Yan, YANG Yang, ZHAO Zhong⁃xin Department of Neurology, Changzheng Hospital, the Second Military Medical University of Chinese PLA, Shanghai 200003,China Correspondingauthor:ZHAOZhong⁃xin(Email:zhaozx@) 【Abstract】 Narcolepsy is a severe neurological sleep disorder, which is caused by the large loss of Hypocretin (Hcrt)/Orexin producing neurons in the hypothalamus in narcolepsy with cataplexy patients. It is likely the result of an autoimmune process that causes selective destruction of Hcrt neurons in the hypothalamus. It has been known that narcolepsy is associated with the human leukocyte antigens (HLA) ⁃ DR2 and HLA ⁃DQB1*0602. Recent epidemic data have shown a robust incidence of disease onset associated with pandemic H1N1 ⁃infection, H1N1 vaccination and streptococcus pyogenes infection. A genome⁃wide association variants in P2RY11 are associated with narcolepsy. Narcolepsy is associated with polymorphisms of the genes encoding T cell receptor ⁃α (TCR⁃α) and tumor necrosis factor ⁃α (TNF ⁃α). Several cases report successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset, but the effects are not persistent. However, there is no significant evidenc