第二代测序技术在五例人类疱疹病毒性脑炎和(或)脑膜炎诊断中的应用

doi:10.3969/j.issn.1672-6731.2020.07.014

中国现代神经疾病杂志 ›› 2020, Vol. 20 ›› Issue (7): 638-642. doi: 10.3969/j.issn.1672-6731.2020.07.014

2 第二代测序技术在五例人类疱疹病毒性脑炎和(或)脑膜炎诊断中的应用

金珂¹, 王晓娟¹, 关鸿志², 秦灵芝¹, 贾亚珍¹, 周珂珂¹, 马海畅¹, 王月¹, 王芳¹, 邢丽³, 李玮¹

1 450003 郑州大学人民医院神经内科;
2 100730 中国医学科学院北京协和医学院北京协和医院神经内科;
3 300450 天津华大基因科技有限公司医学检验所

收稿日期:2020-07-09 出版日期:2020-07-25 发布日期:2020-07-24
通讯作者: 李玮,Email:liwein@zzu.edu.cn
基金资助:
2018年度河南省医学科技攻关计划联合共建项目（项目编号：2018020427）

Next-generation sequencing technology in the diagnosis of five patients with human herpesvirus encephalitis/meningitis

JIN Ke¹, WANG Xiao-juan¹, GUAN Hong-zhi², QIN Ling-zhi¹, JIA Ya-zhen¹, ZHOU Ke-ke¹, MA Hai-chang¹, WANG Yue¹, WANG Fang¹, XING Li³, LI Wei¹

1 Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou 450003, He'nan, China;
2 Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;
3 Tianjin-Beijing Genomics Institute, Tianjin 300450, China

Received:2020-07-09 Online:2020-07-25 Published:2020-07-24
Supported by:
This study was supported by the Key Project of Medical Science and Technology in He'nan Province (No. 2018020427).

摘要/Abstract

摘要：

目的评估脑脊液第二代测序技术在人类疱疹病毒性脑炎和（或）脑膜炎诊断中的应用价值。方法对2018年1-9月5例高度疑似人类疱疹病毒性脑炎和（或）脑膜炎患者的临床特征、实验室和影像学表现进行回顾分析，并结合脑脊液第二代测序结果综合分析病原学来源。结果临床表现为急性发病，以发热、头痛、颈项强直等为主要症状与体征，脑脊液白细胞计数（74~260）×10⁶/L；第二代测序共分离与鉴定病毒1属3种，检出人类疱疹病毒Ⅰ型1例、Ⅲ型3例和Ⅳ型1例；人类疱疹病毒核酸序列数为4~5406条，将鉴定的读数映射到病毒基因组的覆盖度为0.08%~81.01%。结论脑脊液第二代测序技术可辅助人类疱疹病毒性脑炎和（或）脑膜炎的诊断，并可对病毒进行准确分型，值得在临床推广应用。

关键词: 脑炎, 病毒性, 脑膜炎, 病毒性, 疱疹病毒科感染, 脑脊髓液, 基因检测

Abstract:

Objective To evaluate the value of next-generation sequencing (NGS) of cerebrospinal fluid (CSF) in the diagnosis of human herpesvirus encephalitis/meningitis. Methods The clinical features, laboratory and imaging findings of 5 patients with highly suspected human herpesvirus encephalitis/meningitis from January to September 2018 were retrospectively analyzed, and then the etiological sources were comprehensively analyzed combined with the results of NGS. Results All of the 5 patients had an acute onset, fever, headache and neck ankylosis. The CSF tests revealed a slight increased level of white blood cell count (74-260)×10⁶/L. Among them, a total of 4-5406 nucleic acid sequences of human herpesvirus, including human herpesvirus type Ⅰ (n=1), human herpesvirus type Ⅲ (n=3) and human herpesvirus type Ⅳ (n=1) were detected by NGS, with the coverage varing from 0.08% to 81.01%. Conclusions NGS of CSF can assist the diagnosis of human herpesvirus encephalitis/meningitis, as well as viruses accurate classification, which is worth popularizing and applying in clinic.

Key words: Encephalitis, viral, Meningitis, viral, Herpesviridae infections, Cerebrospinal fluid, Genetic testing

金珂, 王晓娟, 关鸿志, 秦灵芝, 贾亚珍, 周珂珂, 马海畅, 王月, 王芳, 邢丽, 李玮. 第二代测序技术在五例人类疱疹病毒性脑炎和(或)脑膜炎诊断中的应用[J]. 中国现代神经疾病杂志, 2020, 20(7): 638-642.

JIN Ke, WANG Xiao-juan, GUAN Hong-zhi, QIN Ling-zhi, JIA Ya-zhen, ZHOU Ke-ke, MA Hai-chang, WANG Yue, WANG Fang, XING Li, LI Wei. Next-generation sequencing technology in the diagnosis of five patients with human herpesvirus encephalitis/meningitis[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2020, 20(7): 638-642.

http://journal11.magtechjournal.com/cjcnn/CN/Y2020/V20/I7/638

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2 第二代测序技术在五例人类疱疹病毒性脑炎和(或)脑膜炎诊断中的应用

Next-generation sequencing technology in the diagnosis of five patients with human herpesvirus encephalitis/meningitis

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2 第二代测序技术在五例人类疱疹病毒性脑炎和(或)脑膜炎诊断中的应用

Next-generation sequencing technology in the diagnosis of five patients with human herpesvirus encephalitis/meningitis

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