自身炎症性疾病的神经系统表现  

Neurological manifestations of autoinflammatory diseases

作　　者：龙茜雅 曾进胜[1] LONG Xiya;ZENG Jinsheng(Department of Neurology,The First Affiliated Hospital,Sun Yat-sen University/Guangdong Provincial Key Laboratory for Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology.The First Affiliated Hospital of Sun Yat-sen University,58 Zhongshan Second Road,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院神经科,广东省重大神经疾病诊治研究重点实验室,国家临床重点专科,国家重点学科,广州510080

出　　处：《中国神经精神疾病杂志》2023年第1期40-49,共10页Chinese Journal of Nervous and Mental Diseases

摘　　要：自身炎症性疾病(autoinflammatory diseases,AID)是近年来高度受关注的一类遗传性疾病,其主要特征是固有免疫失调引起的全身性炎症反应,与自身免疫性疾病不同的是,本病通常缺乏自身抗体或抗原特异性T细胞。AID多于幼年起病,可累及全身多系统,其中神经系统表现可为主要或首发症状,包括头痛、亚急性脑病、无菌性脑膜炎、脑血管病变、颅内钙化、脑实质损害和脑神经病等。目前诊断AID主要依赖临床表型和基因检测。神经功能残障是影响患者临床预后的重要因素,故通过重要临床线索早期识别、诊断AID并尽早启动治疗,对于改善患者临床预后具有重要意义。Autoinflammatory diseases(AID)are growing group of genetic diseases of great concern caused by exaggerated activation of innate immunity.Different from autoimmune diseases,AID are characterized by unprovoked recurrent attacks of systemic inflammation without presence of auto-antibodies and antigen-specific T cells.AID typically occurs at early childhood and can have multiple organs involved.Neurological manifestations are one of the major clinical features in some cases including headache,subacute encephalopathy,febrile meningitis,cerebrovascular diseases,intracranial calcification,parenchymal damage and cranial neuropathy.The diagnosis of AID currently relies on clinical phenotypes and genetic testing.Neurological disability is an essential factor affecting the clinical prognosis of patients,so early identification and diagnosis of AID by vital clinical clues and early initiation of treatment are of great importance to improve the clinical prognosis.

关 键 词：遗传性自身炎症性疾病 神经系统 临床表现 头痛 亚急性脑病 无菌性脑膜炎 颅内钙化 早发性卒中 

分 类 号：R741[医药卫生—神经病学与精神病学]