应用二代测序诊断中枢神经系统感染性疾病的回顾性分析

Retrospective analysis of metagenomic next-generation sequencing in the diagnosis of central nervous system infectious disease

目的探讨宏基因二代测序技术对感染性脑炎与脑膜炎病原体诊断的临床价值。方法回顾性分析2018年3月至2019年9月于赤峰学院附属医院神经内科住院诊断为感染性脑炎与脑膜炎患者的临床特点、二代测序与传统实验室检测病原体的相关资料。结果104例颅内感染的脑脊液样本检出以下致病病原体DNA特异性序列:细菌22例(22/104,21.15%)、病毒24例(24/104,23.08%)、真菌1例(1/104,0.96%)、寄生虫1例(1/104,0.96%)、支原体1例(1/104,0.96%),其中检测出最多的3种病原体为水痘-带状疱疹病毒、链球菌和结核分枝杆菌。通过宏基因二代测序技术诊断的真阳性结果例数为49例,真阳性率为47.12%(49/104),假阳性结果例数为21例,假阳性率20.19%(21/104),假阴性结果例数为34例,假阴性率32.69%(34/104)。结论宏基因二代测序技术对感染性脑炎与脑膜炎的病原体检测较传统的病原学检测方法更敏感,在感染性脑炎与脑膜炎的精准化诊断方面具有优势。

Objective To assess the clinical value of metagenomic next-generation sequencing(mNGS)of cerebrospinal fluid in pathogenic diagnosis of neurological infectious disease.Methods Patients who were clinically diagnosed with infectious encephalitis and meningitis and treated in Department of Neurology,Affiliated Hospital of Chifeng University from March 2018 to September 2019 were retrospectively analyzed,including the clinical characteristics and data of mNGS and traditional laboratory test of pathogens.Results Totally 104 patients with infectious encephalitis and meningitis were eligible for enrollment,and mNGS detected 22 bacterial species(22/104,21.15%),24 viral species(24/104,23.08%),one fungal species(1/104,0.96%),one parasitic species(1/104,0.96%)and one mycoplasma species(1/104,0.96%).The three leading positive detections were varicella-zoster virus(n=19),streptococcus(n=7)and Mycobacterium tuberculosis(n=4).Combined with traditional pathogen detection methods,clinical manifestations,final diagnosis and treatment results,the number of cases diagnosed by mNGS was 49 cases.The positive rate of the mNGS was 47.12%(49/104).False positives occurred in 21(20.19%)patients.False negatives occurred in 34(32.69%)patients.Conclusions mNGS is more sensitive in evaluating the pathogens causing the infectious encephalitis and meningitis.It has advantages in accurate diagnosis of infectious encephalitis and meningitis.