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宏基因组二代测序在结缔组织病合并感染患者中的临床价值:来自中国南方医院的单中心研究

Clinical value of metagenomic next-generation sequencing in patients with connective tissue diseases co-infections: a single-center study from southern hospital in China.

作者信息

Xiao Yuan-Yuan, Lu Ai-Ling, Mo Han-You, He Zhen-Dong, Wen Jia-Le, Yin Xuan

机构信息

Department of Rheumatology, Guilin Medical University, Guilin, Guangxi, China.

Department of Rheumatology, Liuzhou Worker's Hospital, Liuzhou, China.

出版信息

Clin Rheumatol. 2025 Jun 20. doi: 10.1007/s10067-025-07525-6.

Abstract

OBJECTIVES

This study aimed to assess the clinical value of metagenomic next-generation sequencing (mNGS) in patients with connective tissue diseases (CTDs) co-infections, thereby establishing a foundation for early infection identification and the development of anti-infective regimens.

METHODS

This retrospective study analyzed 304 CTD patients with suspected infections at the First Affiliated Hospital of Guangxi Medical University between October 2020 and April 2024. The study compared the diagnostic efficacy between mNGS and conventional microbiological testing (CMT), examined pathogen detection rates across different periods and pathogen types, and evaluated the clinical outcomes of mNGS-guided antimicrobial regimen adjustments.

RESULTS

Among the 180 confirmed infections (Group I), mNGS demonstrated superior diagnostic performance compared to conventional microbiological testing (CMT). mNGS exhibited significantly higher sensitivity (89.6% vs. 57.0%; OR = 6.5, 95% CI: 3.7-11.0, p < 0.001), with a specificity of 81.5%, positive predictive value (PPV) of 97.2%, and negative predictive value (NPV) of 52.4%. mNGS outperformed CMT in detecting bacterial and viral pathogens (p < 0.05). Viral infections were the most common. Compared to prior studies, mNGS exhibited improved pathogen detection rates. mNGS-guided treatment optimization significantly enhanced clinical outcomes, with higher cure rates, lower mortality, and shorter hospital stays.

CONCLUSION

Current evidence suggests that while mNGS demonstrates superior diagnostic performance over CMT for detecting infections in CTD patients, their combined use provides optimal pathogen identification accuracy and enhanced clinical management. Key Points • This is the larger-scale retrospective study of mNGS application in patients with CTDs co-infections following the Coronavirus Disease 2019 (COVID-19). • We found that the distribution of pathogens and positivity rates have changed in recent years, especially after the COVID-19. • The clinical value of mNGS was further demonstrated through its impact of mNGS results on antibiotic regimens and the analysis of negative samples.

摘要

目的

本研究旨在评估宏基因组下一代测序(mNGS)在结缔组织病(CTD)合并感染患者中的临床价值,从而为早期感染识别及抗感染治疗方案的制定奠定基础。

方法

本回顾性研究分析了2020年10月至2024年4月期间在广西医科大学第一附属医院的304例疑似感染的CTD患者。该研究比较了mNGS与传统微生物检测(CMT)的诊断效能,检查了不同时期和病原体类型的病原体检出率,并评估了mNGS指导下抗菌治疗方案调整的临床结局。

结果

在180例确诊感染患者(第一组)中,mNGS在诊断性能上优于传统微生物检测(CMT)。mNGS的敏感性显著更高(89.6%对57.0%;OR = 6.5,95%CI:3.7 - 11.0,p < 0.001),特异性为81.5%,阳性预测值(PPV)为97.2%,阴性预测值(NPV)为52.4%。mNGS在检测细菌和病毒病原体方面优于CMT(p < 0.05)。病毒感染最为常见。与先前研究相比,mNGS的病原体检出率有所提高。mNGS指导下的治疗优化显著改善了临床结局,治愈率更高,死亡率更低,住院时间更短。

结论

当前证据表明,虽然mNGS在检测CTD患者感染方面的诊断性能优于CMT,但两者联合使用可提供最佳的病原体识别准确性并加强临床管理。要点• 这是2019冠状病毒病(COVID - 19)后mNGS在CTD合并感染患者中应用的规模较大的回顾性研究。• 我们发现近年来病原体的分布和阳性率发生了变化,尤其是在COVID - 19之后。• 通过mNGS结果对抗生素方案的影响以及对阴性样本的分析,进一步证明了mNGS的临床价值。

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