宏基因组二代测序在儿童中枢神经系统感染性疾病研究中的应用
Application of Metagenomic Next-Generation Sequencing in the Study of Infectious Diseases of the Central Nervous System in Children
DOI: 10.12677/acm.2025.154916, PDF,   
作者: 汪奕臣, 王建辉*：重庆医科大学附属儿童医院新生儿诊治中心，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆
关键词: 宏基因组二代测序；儿童；中枢神经系统感染；病原体检测；精准医学；Metagenomic Next-Generation Sequencing； Children； Central Nervous System Infections； Pathogen Detection； Precision Medicine
摘要: 中枢神经系统(Center Nervous System, CNS)感染性疾病是儿童时期的严重疾病，病因复杂，传统检测方法常难以确诊。宏基因组二代测序(Metagenomic Next-Generation Sequencing, mNGS)作为一种无偏倚、高通量的检测技术，可同时检出多种病原体，并在经验性抗生素治疗后仍具有较高的检出率，在疑难和罕见感染的诊断中具有优势。然而，mNGS仍存在灵敏度受限、污染导致假阳性、检出阈值设定和数据解读复杂等问题。部分研究表明，其在病毒性、细菌性、结核性脑膜炎及寄生虫感染中的诊断价值高于传统方法。结合宿主反应分析可进一步提升mNGS的诊断能力，有助于精准识别病因。本文旨在综述mNGS在儿童CNS感染中的应用进展，探讨其优势与局限，并展望未来优化方向，以提高其临床应用价值。
Abstract: Central nervous system (CNS) infectious diseases are severe conditions in children with complex etiologies, often posing diagnostic challenges for conventional methods due to their limited sensitivity and specificity. Metagenomic next-generation sequencing (mNGS), as an unbiased and high-throughput detection technology, enables the simultaneous identification of a wide range of pathogens, including bacteria, viruses, fungi, and parasites, even after empirical antibiotic treatment. This technique has shown significant advantages in diagnosing complex, rare, and atypical infections. However, challenges such as limited sensitivity, false positives due to contamination, threshold setting, and complex data interpretation remain unresolved. Studies have demonstrated that mNGS has higher diagnostic value than conventional methods for viral, bacterial, tuberculous, and parasitic infections of the CNS. Moreover, integrating host response analysis with mNGS can enhance diagnostic accuracy and facilitate the differentiation between infectious and non-infectious encephalitis. This review aims to summarize the current applications of mNGS in pediatric CNS infections, discuss its advantages and limitations, and explore future directions for optimization to improve its clinical utility.
文章引用：汪奕臣, 王建辉. 宏基因组二代测序在儿童中枢神经系统感染性疾病研究中的应用[J]. 临床医学进展, 2025, 15(4): 175-184. https://doi.org/10.12677/acm.2025.154916

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