病原微生物高通量测序在儿童感染性疾病诊断中的应用现状
Application of High-Throughput Sequencing of Pathogenic Microorganisms in Diagnosis of Infectious Diseases in Children
DOI: 10.12677/ACM.2023.131071, PDF,   
作者: 邓佳怡, 郑改焕*：国家儿童健康与疾病临床研究中心，儿科发育疾病研究教育部重点实验室，儿童感染免疫重庆市重点实验室，重庆
关键词: 宏基因组学下一代测序；高通量测序；感染性疾病；儿童；Metagenomic Next-Generation Sequencing； High-Throughput Sequencing； Infectious Diseases； Children
摘要: 感染性疾病是世界范围内儿童死亡的主要原因之一。近年来循证医学逐步发展，病因诊断变得越来越重要。依靠传统方法已无法满足目前医学环境下诊断和治疗的需要，宏基因组学下一代测序(mNGS)逐渐显示出其在病原体诊断方面的独特优势。本文旨在通过综述近年来国内外mNGS应用相关文献，介绍其在感染性疾病诊断和治疗中的提示意义。
Abstract: Infectious diseases are the leading cause of death of children worldwide. With the development of evidence-based medicine in recent years, etiological diagnosis becomes more and more important. Relying on traditional methods has been unable to meet the needs of diagnosis and treatment in the current medical environment. Metagenomic next-generation sequencing (mNGS) has gradually shown its unique advantages in pathogen diagnosis. This article aims to introduce the significance of mNGS in the diagnosis and treatment of infectious diseases by reviewing the relevant literature on the application of mNGS at home and abroad in recent years.
文章引用：邓佳怡, 郑改焕. 病原微生物高通量测序在儿童感染性疾病诊断中的应用现状[J]. 临床医学进展, 2023, 13(1): 478-483. https://doi.org/10.12677/ACM.2023.131071

参考文献

[1] Chiu, C.Y. and Miller, S.A. (2019) Clinical Metagenomics. Nature Reviews. Genetics, 20, 341-355. [Google Scholar] [CrossRef] [PubMed]
[2] Sanger, F., Nicklen, S. and Coulson, A.R. (1977) DNA Se-quencing with Chain-Terminating Inhibitors. Proceedings of the National Academy of Sciences of the United States of America, 74, 5463-5467. [Google Scholar] [CrossRef] [PubMed]
[3] Han, D., Li, Z., Li, R., et al. (2019) mNGS in Clinical Microbiology Laboratories: On the Road to Maturity. Critical Reviews in Microbiology, 45, 668-685. [Google Scholar] [CrossRef] 
[4] 姚仲伟, 李美锦, 王桃, 等. 肺泡灌洗液宏基因组测序在儿童重症社区获得性肺炎的诊断价值[J]. 实用医学杂志, 2021, 37(9): 1203-1206.
[5] 马彩霞, 陈镜龙, 陆泳, 等. 肺泡灌洗液宏基因组测序在儿童重症肺炎支原体肺炎混合感染中的诊断价值[J]. 临床儿科杂志, 2020, 38(12): 891-895.
[6] Yan, G.F., Liu, J., Chen, W.M., et al. (2021) Metagenomic Next-Generation Sequencing of Bloodstream Microbial Cell-Free Nucleic Acid in Children with Suspected Sepsis in Pediatric Intensive Care Unit. Fron-tiers in Cellular and Infection Microbiology, 11, Article ID: 665226. [Google Scholar] [CrossRef] [PubMed]
[7] Li, H., Gao, H., Meng, H., et al. (2018) Detection of Pulmonary Infectious Pathogens from Lung Biopsy Tissues by Metagenomic Next-Generation Sequencing. Frontiers in Cellular and Infection Microbiology, 8, 205. [Google Scholar] [CrossRef] [PubMed]
[8] Boheemen, S., Rijn, A., Pappas, N., et al. (2019) Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respirato-ry Samples from Pediatric Patients. The Journal of Molecular Diagnostics: JMD, 22, 196-207. [Google Scholar] [CrossRef] [PubMed]
[9] Zheng, Y.H., Lin, W., Zhang, T.L., et al. (2022) Value of Meta-genomic Next-Generation Sequencing in Children with Severe Infectious Diseases. Chinese Journal of Contemporary Pediatrics, 24, 273-278.
[10] Polage, C.R. and Cohen, S.H. (2016) State-of-the-Art Microbiologic Testing for Commu-nity-Acquired Meningitis and Encephalitis. Journal of Clinical Microbiology, 54, 1197-1202. [Google Scholar] [CrossRef] 
[11] Ge, M., Gan, M., Yan, K., et al. (2021) Combining Metagenomic Se-quencing with Whole Exome Sequencing to Optimize Clinical Strategies in Neonates with a Suspected Central Nervous System Infection. Frontiers in Cellular and Infection Microbiology, 11, Article ID: 671109. [Google Scholar] [CrossRef] [PubMed]
[12] Erdem, G., Kaptsan, I., Sharma, H., Kumar, A., et al. (2021) Cer-ebrospinal Fluid Analysis for Viruses by Metagenomic Next-Generation Sequencing in Pediatric Encephalitis: Not Yet Ready for Prime Time? Journal of Clinical Microbiology, 36, 350-356. [Google Scholar] [CrossRef] [PubMed]
[13] Li, M.H., Li, Y.J., Hu, B., et al. (2019) Clinical Characteristics and Next Generation Sequencing of Three Cases of Listeria monocytogenes Meningitis with Complications. Chinese Journal of Pediatrics, 57, 603-607.
[14] 过湘云, 陈李兰, 马静波. 宏基因组二代测序确诊皮氏罗尔斯顿菌感染化脓性脑膜炎1例[J]. 临床神经病学杂志, 2021, 34(6): 411-411+458.
[15] Saha, S., Ramesh, A., Kalantar, K., et al. (2019) Unbiased Metagenomic Sequencing for Pediatric Meningitis in Bangladesh Reveals Neuroinvasive Chikungunya Virus Outbreak and Other Unrealized Pathogens. mBio, 10, e02877-19. [Google Scholar] [CrossRef] 
[16] 张芙蓉, 陈锋. 高通量测序技术诊断儿童结核性脑膜炎合并血管炎1例[J]. 中国中西医结合急救杂志, 2021, 28(2): 234-236.
[17] 钱乔乔, 刘婷, 孙丹, 等. 脑脊液二代测序对5例结核性脑膜炎患儿精准诊断价值研究[J]. 中国实用儿科杂志, 2021, 36(1): 53-56.
[18] 尚永朋, 赵宇曦, 邓名贵, 等. 宏基因组二代测序技术辅助诊断新生儿埃可病毒18型聚集性感染[J]. 中国感染控制杂志, 2022, 21(4): 317-322.
[19] Ward, D.V., Hoss, A.G., Kolde, R., et al. (2019) Integration of Genomic and Clinical Data Augments Surveillance of Healthcare-Acquired Infections. Infection Control & Hospital Epidemiology, 40, 649-655. [Google Scholar] [CrossRef] [PubMed]
[20] Jerome, H., Taylor, C., Sreenu, V.B., et al. (2019) Metagenomic Next-Generation Sequencing Aids the Diagnosis of Viral Infections in Febrile Returning Travellers. Journal of Infection, 79, 383-388. [Google Scholar] [CrossRef] [PubMed]
[21] 许愿愿, 王昶, 童文佳, 等. 儿童重症结核病3例临床特点及宏基因组二代测序结果分析[J]. 中华实用儿科临床杂志, 2021, 36(15): 1187-1190.
[22] 刘霞, 孟晨, 马静, 等. 呼吸内镜联合快速现场评价技术在儿童活动性肺结核诊断中的应用价值[J]. 中华实用儿科临床杂志, 2021, 36(18): 1412-1416.
[23] Wen, Z.L., Wu, L.W., Wang, L., et al. (2022) Comprehensive Genetic Analysis of Tuberculosis and Identification of Candidate Biomarkers. Frontiers in Genetics, 13, Article ID: 832739. [Google Scholar] [CrossRef] [PubMed]
[24] 罗智强, 廖建湘. 儿童广州管圆线虫脑膜炎3例临床特点及脑脊液宏基因二代测序诊断价值分析[J]. 中国实用儿科杂志, 2022, 37(1): 59-62.
[25] Du, B., Tao, Y., Ma, J., et al. (2018) Identification of Sparganosis Based on Next-Generation Sequencing. Infection, Genetics and Evolution, 66, 256-261. [Google Scholar] [CrossRef] [PubMed]
[26] 林威, 林蓓蓓, 唐震海, 等. 宏基因组二代测序技术协助诊断3例无焦痂儿童恙虫病[J]. 中华实用儿科临床杂志, 2022, 37(3): 210-213.
[27] 丁锡富, 施国富, 胡爱荣, 等. 基于宏基因组二代测序的聚集性发热事件病原体鉴定[J]. 中国卫生检验杂志, 2022, 32(2): 182-185.
[28] 赵朝慧, 朱红琼, 刘曦. 宏基因组测序在感染性疾病患者无菌部位检测病原体的价值[J]. 中国热带医学, 2021, 21(7): 658-662.
[29] Niles, D.T., Revell, P.A., Ruderfer, D., et al. (2022) Clinical Impact of Plasma Metagenomic Next-Generation Sequencing in a Large Pediatric Cohort. The Pediatric Infectious Disease Journal, 41, 166-171. [Google Scholar] [CrossRef] 
[30] Li, Y.G., Jiao, M.F., Liu, Y., et al. (2022) Application of mNGS in Mycobacterium tuberculosis Infection. Frontiers in Medicine, 9, Article ID: 802719. [Google Scholar] [CrossRef] [PubMed]
[31] 徐放, 申阿东. 宏基因组测序在儿童呼吸道感染性疾病研究中的应用[J]. 中华实用儿科临床杂志, 2020, 35(10): 783-786.
[32] 编辑委员会中华传染病杂志. 中国宏基因组学第二代测序技术检测感染病原体的临床应用专家共识[本文附更正] [J]. 中华传染病杂志, 2020, 38(11): 681-689.
[33] 宏基因组分析和诊断技术在急危重症感染应用的专家共识[J]. 中华急诊医学杂志, 2019(2): 151-155.
[34] Brown, J.R., Bharucha, T. and Breuer, J. (2018) Encephalitis Diagnosis Using Metagenomics: Applica-tion of Next Generation Sequencing for Undiagnosed Cases. Journal of Infection, 76, 225-240. [Google Scholar] [CrossRef] [PubMed]
[35] Chai, J.H., Lee, C.K., Lee, H.K., et al. (2018) Cost-Benefit Analysis of Introducing Next-Generation Sequencing (Metagenomic) Pathogen Testing in the Setting of Pyrexia of Unknown Origin. PLOS ONE, 13, e0194648. [Google Scholar] [CrossRef] [PubMed]
[36] 中华医学会儿科学分会新生儿学组, 中华儿科杂志编辑委员会. 宏基因组二代测序技术在新生儿感染性疾病中的临床应用专家共识[J]. 中华儿科杂志, 2022, 60(6): 516-521.

为你推荐