肺组织mNGS诊断免疫功能正常的血行播散性肺结核1例并文献复习

Metagenomic Next-Generation Sequencing for Diagnosis of Hematogenous Pulmonary Tuberculosis of an Immunocompetent Patient: A Case Report and Literature Review

摘要: 目的：探讨不同标本类型送检mNGS对结核的诊断效能，结合文献资料提高对血行播散型肺结核的认识。方法：报道1例肺泡灌洗液及血液mNGS阴性，最终利用肺组织送检mNGS诊断出的免疫功能正常的血行播散型肺结核病例，同时进行系统的文献复习。以“二代测序”或“mNGS”和“肺结核”为关键词，通过万方和中国知网数据库对2023年5月前的中文文献进行检索；以“mNGS, infectious disease, China”为关键词，通过PubMed数据库检索英文文献，结合病例及文献进行分析。结果：本病例中，患者病情进展迅速且常规抗感染无效，取患者支气管肺泡灌洗液及血液标本送检mNGS均未检测出致病菌，最终通过CT引导下细针穿刺肺组织送检mNGS检出结核分枝杆菌复合群而做出确切诊断；通过对中英文文献进行检索分析，文献报道中均提出mNGS检测技术在感染性疾病中的诊断价值，同时提出不同的标本类型会对mNGS的结果产生影响。结论：mNGS对不明原因的肺部感染的诊断具有良好价值；对于结核的诊断选择肺组织送检mNGS相较于其他标本有更好的优势；对于病情进展迅速的高度疑似肺结核感染的患者，即使其免疫功能正常，也考虑血行播散性肺结核的可能。

Abstract: Objective: Exploring the diagnostic efficacy of mNGS for tuberculosis in different sample types and combining literature to improve the understanding of hematogenous disseminated pulmonary tu-berculosis. Method: A case of hematogenous pulmonary tuberculosis with normal immune function diagnosed by pulmonary tissue mNGS was reported. Using the keywords “Metagenomic Next- Gen-eration Sequencing” or “mNGS” and “tuberculosis”, Chinese literature before May 2023 was searched through Wanfang and CNKI databases; Taking “mNGS, infectious disease, China” as the key words, English literature was searched through the PubMed database. Result: In this case, the pa-tient’s disease progressed rapidly and conventional anti-infection measures were ineffective. No pathogenic bacteria were detected in the mNGS of the patient’s bronchoalveolar lavage fluid and blood samples, and the final diagnosis was made by CT guided fine needle aspiration of lung tissue to detect the mNGS. Through the retrieval and analysis of literature, that have proposed the diag-nostic value of mNGS detection technology in infectious diseases, and proposed that different spec-imen types will affect the results of mNGS. Conclusion: MNGS has good value in the diagnosis of un-explained pulmonary infections; For the diagnosis of tuberculosis, mNGS in lung tissue has a better advantage than other specimens; For highly suspected pulmonary tuberculosis patients with rapid disease progression, even if their immune function is normal, the possibility of hematogenous dis-seminated pulmonary tuberculosis should be considered.