宏基因组二代测序在脓毒症病原体诊断中的应用进展

Role of metagenomics next-generation sequencing in the pathogen diagnosis in sepsis

脓毒症是威胁人类生命健康的重要疾病。早期、合理的抗生素使用是脓毒症治疗的重要环节。然而由于病原体种类繁多,快速、全面、精准的鉴定病原体是脓毒症诊疗过程中的难点。传统病原学检测手段因检测范围窄、目标单一、准确率低、阳性率低、检测周期长等因素,常导致疾病治疗延误或抗菌药物滥用,难以满足临床确定严重感染病原体的需要。宏基因组二代测序(mNGS)以其高通量、广覆盖、高精度等优势,能无偏倚性直接分析出标本中的病原微生物谱、丰度和分布情况,在疑难重症感染性疾病的诊断和治疗、未知病原体的鉴定、耐药基因监测方面展现出巨大的应用前景。本文从mNGS对各类感染性疾病的诊断应用、检测影响因素、存在问题等方面进行总结综述,以促进其在脓毒症病原体诊断方面更加合理的应用。

Sepsis is a vital disorder that threatens human life and health.Early and rational antibiotic use is essential for sepsis treatment.However,due to the wide variety of pathogens,rapid,comprehensive,and accurate identification of pathogens is a difficult task in diagnosis and treatment of sepsis.Traditional pathogenic surveillance often leads to delayed treatment or inappropriate antimicrobial therapy due to a narrow detection range,single target,low accuracy,low positive rate,and long detection period,making it challenging to meet the clinical needs of identifying the pathogens of serious infections.With its advantages of high throughput,comprehensive coverage,and high accuracy,mNGS can directly analyze the spectrum,abundance,and distribution of pathogenic microorganisms in specimens without bias and has shown great promise in the diagnosis and treatment of severe and complicated infectious diseases,such as identification of unknown pathogens,and drug resistance gene monitoring.This paper summarizes and reviews diagnostic applications of mNGS in various infectious diseases,the factors affecting detection and rational application in the pathogen diagnosis in sepsis.