自身免疫性脑炎的发病机制及临床特征研究进展

Research Advances in the Pathogenesis and Clinical Features of Autoimmune Encephalitis

摘要: 自身免疫性脑炎(Autoimmune Encephalitis, AE)是一类由免疫系统攻击神经细胞抗原引发的炎症性脑病，临床表现为精神行为异常、癫痫、认知障碍及运动功能障碍等。其发病机制复杂，涉及肿瘤(如畸胎瘤、小细胞肺癌)、感染(如单纯疱疹病毒)、遗传因素(如HLA关联)及免疫治疗副作用等。根据抗体类型，AE可分为抗NMDAR脑炎、边缘性脑炎(如抗LGI1、GABABR抗体相关)及其他罕见类型(如抗DPPX、GlyR抗体相关)，各型临床特征差异显著。诊断依赖Graus分层标准(可能AE/抗体阴性可能AE/确定AE)、脑脊液抗体检测、脑电图(如δ刷现象)及影像学(如边缘系统MRI异常)。治疗以免疫疗法(糖皮质激素、IVIg)、肿瘤切除及支持治疗为主，但部分患者预后仍不理想。未来研究需深入探索发病机制、优化诊断技术(如高通量抗体筛查)并开发靶向疗法，同时需完善鉴别诊断流程以减少误诊率，最终改善患者的生存质量。

Abstract: Autoimmune Encephalitis (AE) is a group of inflammatory brain disorders caused by the immune system targeting neuronal antigens, clinically manifesting as psychiatric symptoms, seizures, cognitive impairment, and motor dysfunction. Its pathogenesis is complex, involving factors such as tumors (e.g., teratoma, small cell lung cancer), infections (e.g., herpes simplex virus), genetic predispositions (e.g., HLA associations), and immunotherapy-related side effects. Based on antibody profiles, AE can be classified into anti-NMDAR encephalitis, limbic encephalitis (e.g., anti-LGI1, anti-GABABR antibody-associated), and other rare subtypes (e.g., anti-DPPX, anti-GlyR antibody-associated), each exhibiting distinct clinical features. Diagnosis relies on the Graus diagnostic criteria (possible AE/antibody-negative probable AE/definite AE), cerebrospinal fluid antibody testing, electroencephalography (e.g., δ brush phenomenon), and neuroimaging (e.g., MRI abnormalities in the limbic system). Treatment primarily involves immunotherapy (e.g., corticosteroids, IVIg), tumor resection, and supportive care, though outcomes remain suboptimal for some patients. Future research should focus on elucidating pathogenic mechanisms, refining diagnostic techniques (e.g., high-throughput antibody screening), and developing targeted therapies, while improving differential diagnostic protocols to reduce misdiagnosis rates, ultimately enhancing patient quality of life.