【摘要】 目的:评价宏基因组二代测序(metagenomic next generation sequencing, mNGS)技术对髋/膝关节结核的诊断价值。方法:采用回顾性研究方法，收集2019年6月至2021年6月河北省胸科医院收治的34例髋/膝关节感染患者资料，按照病原菌种类分为关节结核组(16例)和非结核感染性疾病组(18例),分别对所有患者感染病灶组织样本进行常规细菌学培养和分枝杆菌培养(MGIT 960培养)、结核分枝杆菌(MTB)-DNA扩增检测及mNGS检测。以临床诊断为参照标准，比较分枝杆菌培养、MTB-DNA扩增和mNGS检测对髋/膝关节结核的诊断效能。结果:mNGS对非结核感染性疾病组中病原体的检出率为100.0%(18/18);对髋/膝关节结核的阳性检出率为93.8%(15/16),明显高于MTB-DNA扩增检测[50.0%(8/16)]和MGIT 960培养[25.0%(4/16)],差异均有统计学意义(χ~2=7.575,P=0.015;χ~2=15.676,P=0.000)。以临床诊断为参照标准，mNGS诊断髋/膝关节结核的敏感度[93.8%(15/16)]、阴性预测值[94.7%(18/19)]和Kappa值(0.942)均明显高于常规培养[分别为25.0%(4/16)、60.0%(18/30)和0.260]和MTB-DNA扩增检测[分别为50.0%(8/16)、69.2%(18/26)和0.515],但3种检测方法的特异度和阳性预测值均为100.0%。结论:mNGS技术可有效检出髋/膝关节感染性疾病病原菌，在关节结核诊断中具有更高的诊断效能，可提供重要临床指导。更多还原

【Abstract】 Objective: To investigate the value of metagenomic next generation sequencing applied(mNGS) in diagnosis of hip or knee tuberculosis. Methods: A retrospective analysis was done for 34 cases of hip or knee joint infections who were treated in Hebei Chest Hospital from June 2019 to June 2021. According to the type of pathogenic bacteria, those enrolled patients were divided into two groups: the hip or knee joint tuberculosis group(16 cases) and the non-tuberculous infection group(18 cases). The tissue samples were obtained from infected sites in all patients and were subjected to routine culture of bacteria and mycobacterium(MGIT 960 culture), the gene amplification and mNGS for detection of Mycobacterium tuberculosis DNA(MTB-DNA). The diagnostic efficacy of the three methods was compared with clinical diagnosis as the gold standard. Results: The detection rates of pathogen bacterial by mNGS was 100.0%(18/18) in non-tuberculous infection group. The positive detection rate of MTB by mNGS was 93.8%(15/16) in the joint tuberculosis group, which was higher than that of MTB-DNA amplification(50.0%(8/16)) and MGIT 960 culture(25.0%(4/16)), with significant difference(χ~2=7.575, P=0.015; χ~2=15.676, P=0.000). With clinical diagnosis as the gold standard, the sensitivity(93.8%(15/16)), negative predictive value(94.7%(18/19)) and Kappa value(0.942) of mNGS in the diagnosis of hip or knee tuberculosis were significantly higher than those of routine culture(25.0%(4/16), 60.0%(18/30), 0.260, respectively) and MTB-DNA amplification(50.0%(8/16), 69.2%(18/26), 0.515, respectively). But the specificity and positive predictive value of the three detection methods were 100.0%. Conclusion: mNGS can effectively identify the pathogenic bacteria of hip or knee joint infections. The mNGS has higher diagnostic efficacy in the diagnosis of joint tuberculosis and can provide important clinical guidance.更多还原