宏基因组测序技术及其在耶氏肺孢子菌感染诊断中的应用进展

中国血吸虫病防治杂志（中英文） ›› 2025, Vol. 37 ›› Issue (4): 434-446.

宏基因组测序技术及其在耶氏肺孢子菌感染诊断中的应用进展

薛婷1, 2，杜伟勤2，赵毓静3，徐佳4*

1 National Health Commission Key Laboratory of Pneumoconiosis, Key Laboratory of Respiratory Diseases of Shanxi Province, Key Laboratory of Prevention, Treatment and Fundamental Studies for Respiratory Diseases of Shanxi Province, Department of Respiratory and Critical Care Medicine, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, China; 2 Department of Clinical Laboratory, The People's Hospital of Lüliang, Lüliang, Shanxi 033000, China; 3 Department of Respiratory and Critical Care Medicine, The Second Hospital of Shanxi Medical University, China; 4 Center for Clinical Practice Teaching, Shenyang Medical College, Shenyang, Liaoning 110034, China

出版日期:2025-08-25 发布日期:2025-09-30
通讯作者: 徐佳toxujia@163.com
作者简介:薛婷，女，博士，副教授。研究方向：病原微生物感染及相关机制
基金资助:
国家自然科学基金（32200168）；山西医科大学山西省高等教育“百亿工程”科技引导专项（BYJL044）；山西省中医药科研课题（2020150）；吕梁市人才引进计划专项（2023RC⁃2⁃7）；辽宁省科技厅博士启动项目（2020⁃BS⁃268）；山西医科大学校级博士启动基金（XD1905）；山西省高等学校科技创新项目（2020L0223）

Metagenomic next⁃generation sequencing technology and its application in diagnosis of Pneumocystis jirovecii infection: a review

XUE Ting1, 2, DU Weiqin2, ZHAO Yujing3, XU Jia4*

1 国家卫生健康委员会尘肺病重点实验室、呼吸疾病防治山西省重点实验室、山西省呼吸疾病防治与基础研究重点实验室、山西医科大学第一医院呼吸与危重症医学科（山西太原 030001）；2 山西省吕梁市人民医院医学检验科（山西吕梁 033000）；3 山西医科大学第二医院呼吸与危重症医学科；4 沈阳医学院临床实践教学中心（辽宁沈阳 110034）

Online:2025-08-25 Published:2025-09-30

摘要/Abstract

摘要： 耶氏肺孢子菌是引起免疫功能低下患者发生致命耶氏肺孢子菌肺炎（Pneumocystis jirovecii pneumonia，PJP）的机会致病性真菌，传统病原学检测手段存在一定局限性，可能导致误诊、漏诊，影响PJP的早期诊治。宏基因组测序技术（metagenomics next⁃generation sequencing，mNGS）检测灵敏度和特异度高，能准确检测耶氏肺孢子菌及混合感染病原体，有助于PJP的及时诊断与治疗。本文综述了mNGS及其在PJP诊断中的应用进展，并探讨了其在PJP诊断、临床治疗以及预防院内传播方面的重要临床价值。

关键词: 耶氏肺孢子菌, 宏基因组测序技术, 肺孢子菌肺炎, 感染诊断, 应用进展

Abstract: Pneumocystis jirovecii is an opportunistic fungal pathogen causing fatal Pneumocystis jirovecii pneumonia (PJP) among immunocompromised patients. Conventional pathogen detection methods have limitations, which hinders early diagnosis and treatment of PJP, resulting in misdiagnosis and underdiagnosis, and high mortality rates. Metagenomic next⁃generation sequencing (mNGS), which is high in sensitivity and specificity for pathogen detection, enables accurate detection of P. jirovecii and P. jirovecii co⁃infection with other pathogens, which facilitates timely diagnosis and treatment of PJP. This review summarizes the advances in mNGS technology and its application in diagnosis of PJP, highlighting its critical clinical value in improving diagnostic effectiveness, guiding clinical therapy, and preventing nosocomial transmission of PJP.

Key words: Pneumocystis jirovecii, Metagenomic next?generation sequencing, Pneumocystis jirovecii pneumonia, Infection diagnosis, Application progress

中图分类号:

R531.5

薛婷, 杜伟勤, 赵毓静, 徐佳. 宏基因组测序技术及其在耶氏肺孢子菌感染诊断中的应用进展[J]. 中国血吸虫病防治杂志（中英文）, 2025, 37(4): 434-446.

XUE Ting, DU Weiqin, ZHAO Yujing, XU Jia. Metagenomic next⁃generation sequencing technology and its application in diagnosis of Pneumocystis jirovecii infection: a review[J]. Chinese Journal of Schistosomiasis Control, 2025, 37(4): 434-446.

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