脑脊液二代测序在病毒性脑炎与自身免疫性脑炎鉴别中的应用:基于5例患者的诊治经过  

The implication of CSF next-generation sequencing in the differentiation between viral encephalitis and autoim-mune encephalitis :based on the diagnosis and treatment of 5 cases

作　　者：俞越 石静萍[1] 祝东林[1] YU Yue;SHI Jingping;ZHU Donglin(Department of Neurology,Affiliated Brain Hospital,Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属脑科医院神经内科,江苏南京210029

出　　处：《中国实用神经疾病杂志》2019年第21期2327-2333,共7页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金(编号:81501168);南京医科大学“十三五”教育研究课题(编号:QN2017160);南京医科大学研究生教育教学改革课题(编号:SPOCYB201920);南京医科大学附属脑科医院青年人才工程(编号:688)。

摘　　要：目的 探讨脑脊液二代基因测序(Next Generation Sequencing,NGS)在自身免疫性脑炎与病毒性脑炎早期精准鉴别中的应用.方法 收集2017-05-2019-05在南京医科大学附属脑科医院神经内科住院治疗并经脑脊液二代测序确诊为病毒性脑炎5例患者,对其诊治经过进行回顾性分析,并结合文献进行讨论.脑脊液二代测序由华大基因研究院进行.结果 5例患者均具备类似于自身免疫性脑炎的起病形式 、临床症状 、影像学改变及脑脊液表现,根据最近公布的自身免疫性脑炎诊断标准,均需考虑自身免疫性脑炎可能.但脑脊液NGS快速(平均1.8 d)检出人类疱疹病毒1型(即单纯疱疹病毒)2例,3型(即水痘带状疱疹病毒)1例,5型(即人巨细胞病毒)1例,以及1型 、2型及4型(即人EB病毒)混合感染1例.经过抗病毒规范化治疗后,患者临床症状得到完全缓解.结论 脑脊液NGS可用于临床上自身免疫性脑炎及病毒性脑炎的早期精准鉴别,从而减轻患者的负担并减少对患者的伤害.Objective To investigate the application of CSF next generation sequencing(NGS)in the early identification of autoimmune encephalitis and viral encephalitis.Methods Five patients who were admitted to the Department of Neurology of the Affiliated Brain Hospital of Nanjing Medical University from May 2017 to May 1919 and diagnosed as viral encephalitis by cerebrospinal fluid NGS were retrospectively analyzed and discussed.The test of CSF NGS was performed by the Huada Gene Research Institute.Results Five patients had onset,clinical symptoms,imaging changes,and cerebrospinal fluid performance similar to autoimmune encephalitis.According to the recently published diagnostic criteria for autoimmune encephalitis,autoimmune encephalitis may be considered.However,CSF NGS was rapid(on average 1.8 days)and revealed 2 cases of human herpesvirus type I,1 case of human herpesvirus type 3(ie,varicella zoster virus),and 1 case of human herpesvirus type 5(human cytomegalovirus).One case of human herpesvirus type 1 type 2,type 2 and type 4(ie human EB virus)was present.After antiviral treatment,the patient's clinical symptoms were completely relieved.Conclusion CSF NGS can be used for early differential diagnosis between autoimmune encephalitis and viral encephalitis,thus reducing the burden and the harm for patients.

关 键 词：二代基因测序 病毒性脑炎 自身免疫性脑炎 鉴别诊断 

分 类 号：R512.3[医药卫生—内科学]