感染性疾病是临床常见疾病,快速明确病原微生物对于指导合理治疗方案至关重要。传统的病原体检测方法耗时长、阳性率低,难以满足临床需求。宏基因组二代测序(metagenomic next-generation sequencing, mNGS)作为一种新型病原检测方法,...感染性疾病是临床常见疾病,快速明确病原微生物对于指导合理治疗方案至关重要。传统的病原体检测方法耗时长、阳性率低,难以满足临床需求。宏基因组二代测序(metagenomic next-generation sequencing, mNGS)作为一种新型病原检测方法,不依赖于传统的微生物培养,也不需要特异性扩增,且其检测范围广泛,可检测细菌、病毒、真菌、寄生虫、罕见病原体,甚至未知病原体,近年来,已广泛应用于临床病原学诊断。尤其是基于血浆游离DNA (cell-free DNA, cfDNA)的mNGS检测,因其采样便捷、无创性及对全身感染的反映能力,已在临床诊断中得到了广泛的关注和应用。本文综述了血浆cfDNA mNGS在感染性疾病诊断中的临床价值、研究进展及未来展望,旨在为相关研究和临床实践提供参考。Infectious diseases are common in clinical practice, and the rapid identification of causative pathogens is crucial for guiding rational treatment strategies. Conventional microbiological tests are time-consuming and have low positivity rates, making it difficult to meet clinical needs. Metagenomic next-generation sequencing (mNGS), as an emerging pathogen detection method, does not rely on conventional microbial culture or specific amplification. With its broad detection scope, mNGS can identify bacteria, viruses, fungi, parasites, rare pathogens, and even unknown pathogens. In recent years, it has been widely applied in clinical pathogen diagnosis. In particular, plasma cell-free DNA (cfDNA) mNGS has gained significant attention and widespread clinical application due to its ease of sampling, noninvasive nature, and ability to reflect systemic infections. This review summarizes the clinical value, recent advances, and future perspectives of plasma cfDNA mNGS in the diagnosis of infectious diseases, aiming to provide insights for further research and clinical practice.展开更多
文摘感染性疾病是临床常见疾病,快速明确病原微生物对于指导合理治疗方案至关重要。传统的病原体检测方法耗时长、阳性率低,难以满足临床需求。宏基因组二代测序(metagenomic next-generation sequencing, mNGS)作为一种新型病原检测方法,不依赖于传统的微生物培养,也不需要特异性扩增,且其检测范围广泛,可检测细菌、病毒、真菌、寄生虫、罕见病原体,甚至未知病原体,近年来,已广泛应用于临床病原学诊断。尤其是基于血浆游离DNA (cell-free DNA, cfDNA)的mNGS检测,因其采样便捷、无创性及对全身感染的反映能力,已在临床诊断中得到了广泛的关注和应用。本文综述了血浆cfDNA mNGS在感染性疾病诊断中的临床价值、研究进展及未来展望,旨在为相关研究和临床实践提供参考。Infectious diseases are common in clinical practice, and the rapid identification of causative pathogens is crucial for guiding rational treatment strategies. Conventional microbiological tests are time-consuming and have low positivity rates, making it difficult to meet clinical needs. Metagenomic next-generation sequencing (mNGS), as an emerging pathogen detection method, does not rely on conventional microbial culture or specific amplification. With its broad detection scope, mNGS can identify bacteria, viruses, fungi, parasites, rare pathogens, and even unknown pathogens. In recent years, it has been widely applied in clinical pathogen diagnosis. In particular, plasma cell-free DNA (cfDNA) mNGS has gained significant attention and widespread clinical application due to its ease of sampling, noninvasive nature, and ability to reflect systemic infections. This review summarizes the clinical value, recent advances, and future perspectives of plasma cfDNA mNGS in the diagnosis of infectious diseases, aiming to provide insights for further research and clinical practice.
文摘目的探究宏基因组二代测序(metagenomic second-generation sequencing,mNGS)技术在早期检测腹膜透析相关腹膜炎(peritoneal dialysis-associated peritonitis,PDAP)患者细菌感染的病原学价值,了解不同细菌感染类型中细胞因子分布差异,构建相关风险预测模型。方法收集2020年4月─2023年4月就诊于安徽医科大学第一附属医院,符合国际腹膜透透协会(international society for peritoneal dialysis,ISPD)诊断标准的腹膜透析(peritoneal dialysis,PD)患者的临床资料,同时将其入院4小时内PD流出液送检mNGS检查及普通培养,并测定上清液中细胞因子水平,比较mNGS检测与实验室微生物培养病原学诊断结果,综合临床意义分为革兰氏阳性菌(G+菌)组、革兰氏阴性菌(G-菌)组和培养阴性(G0)组,比较2组细胞因子水平差异,确认危险因素并构建风险预测模型,同时进行效能检测。结果共50例PD相关腹膜炎患者纳入本研究,mNGS检测中41例患者检出病原体,检测阳性率高于微生物培养(χ^(2)=0.059,P=0.440),mNGS检测时间低于微生物培养(t=5.180,P<0.001)。多因素Logistics回归分析提示PD液中高白细胞介素(IL)10(OR=1.010,95%CI:1.000~1.020,P=0.024)、低IL-6(OR=0.620,95%CI:0.360~0.890,P=0.038)及高血清降钙素原(OR=1.200,95%CI:1.050~1.530,P=0.016)、低C反应蛋白水平(OR=1.014,95%CI:1.010~1.050,P=0.035)为PDAP预测G-菌感染的独立危险因素。ROC曲线及列线图结果显示上述炎症因子联合较单一因子对预测G-菌感染价值更大。结论mNGS在早期快速检测PDAP病原体方面显示了极大的诊断潜力,PD流出液中细胞因子IL-6、IL-10及血清降钙素原、C反应蛋白水平的整合提高了mNGS结果解释的精确度,依据细胞因子构建的风险预测模型可以较好区分不同种类细菌相关PDAP腹膜炎的患者。
