探讨宏基因组二代测序(metagenomic nextgeneration sequencing, mNGS)对非结核分枝杆菌肺病(non-tuberculous Mycobacterial pulmonary disease, NTM-PD)的诊断价值，分析临床特征。

回顾性选择2020年1月至2024年1月我院收治的93例疑似NTM-PD患者临床资料，患者接受分枝杆菌培养及mNGS检测。以临床确诊结果为金标准，比较两种方法诊断效能；分析确诊NTM-PD患者的菌种分布、感染类型、临床表现及预后。

93例疑似患者中确诊NTM-PD 65例(69.89%)。与确诊结果相比，分枝杆菌培养诊断准确率76.34%，Kappa值为0.470(P<0.05)；mNGS诊断准确率94.62%，Kappa值为0.873(P<0.05)。65例确诊患者中单独NTM感染43例(66.15%)，混合NTM感染22例(33.85%)，其中2种混合11例、3种混合9例、4种混合2例。共检出7种菌种，胞内分枝杆菌29例(44.62%)、鸟分枝杆菌17例(26.15%)、龟脓肿分枝杆菌14例(21.54%)、偶发分枝杆菌10例(15.38%)，副胞内分枝杆菌9例(13.85%)、马萨分枝杆菌7例(10.77%)、楚布分枝杆菌5例(7.69%)。ROC曲线显示，分枝杆菌培养诊断NTM-PD的AUC为0.607(95%CI：0.477~0.736，P＝0.104)，敏感性78.46%，特异性74.42%；mNGS的AUC为0.923(95%CI：0.850~0.997，P<0.001)，敏感性95.38%，特异性92.85%，两者AUC差异有统计学意义(Z＝4.176，P<0.001)。65例确诊患者中64例经抗分枝杆菌治疗后病情控制良好，1例合并COPD、肺心病、支气管扩张等多种基础疾病，因脓毒性休克、多器官功能障碍综合征死亡。

mNGS诊断NTM-PD的敏感性和特异性优于传统分枝杆菌培养，能准确鉴定菌种并分辨混合感染，诊断效能高，具有临床意义。

To evaluate the diagnostic value of metagenomic nextgeneration sequencing (mNGS) in non-tuberculous Mycobacterial pulmonary disease (NTMPD) and to analyse its clinical characteristics.

Clinical data of 93 patients with suspected NTMPD admitted to our hospital from January 2020 to January 2024 were retrospectively reviewed. All patients underwent mycobacterium culture and mNGS testing. Using the final clinical diagnosis as the gold standard, the diagnostic performances of the two methods were compared. The mycobacterial species distribution, infection types, clinical manifestations, and prognosis of confirmed NTMPD patients were analysed.

Among the 93 suspected patients, 65 cases (69.89%) were definitively diagnosed with NTMPD. Compared with the confirmed diagnosis, the diagnostic accuracy of mycobacterium culture was 76.34%, with a Kappa value of 0.470 (P<0.05), indicating moderate agreement; the diagnostic accuracy of mNGS was 94.62%, with a Kappa value of 0.873 (P<0.05), indicating excellent agreement. Among the 65 confirmed patients, 43 cases (66.15%) had single NTM infection and 22 cases (33.85%) had mixed NTM infection, of which 11 cases had 2 species, 9 had 3 species, and 2 had 4 species. A total of 7 species were identified: Mycobacterium intracellulare in 29 cases (44.62%), Mycobacterium avium in 17 cases (26.15%), Mycobacterium abscessus in 14 cases (21.54%), Mycobacterium fortuitum in 10 cases (15.38%), Mycobacterium paraintracellulare in 9 cases (13.85%), Mycobacterium massiliense in 7 cases (10.77%), and Mycobacterium chubuense in 5 cases (7.69%). ROC curve analysis showed that the AUC for mycobacterium culture in diagnosing NTMPD was 0.607 (95%CI: 0.477~0.736, P=0.104), with a sensitivity of 78.46% and specificity of 74.42%; the AUC for mNGS was 0.923 (95% CI: 0.850~0.997, P<0.001), with a sensitivity of 95.38% and specificity of 92.85%. The difference in AUC between the two methods was statistically significant (Z=4.176, P<0.001). Of the 65 confirmed patients, 64 responded well to antimycobacterial treatment, while 1 patient, who had underlying comorbidities including COPD, cor pulmonale, and bronchiectasis, died of septic shock and multiple organ dysfunction syndrome.

mNGS demonstrates superior sensitivity and specificity over traditional mycobacterium culture in diagnosing NTMPD. It accurately identifies mycobacterial species and distinguishes mixed infections, offering high diagnostic efficacy and significant clinical utility.