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宏基因组二代测序在感染性葡萄膜炎诊断中的应用:一项全面的系统评价

Metagenomic Next-Generation Sequencing for the Diagnosis of Infectious Uveitis: A Comprehensive Systematic Review.

作者信息

Pardo Isabele, Finamor Luciana P S, Marra Pedro S, Ferreira Julia Messina G, Gutfreund Maria Celidonio, Hsieh Mariana Kim, Li Yimeng, Pinho João Renato Rebello, Rizzo Luiz Vicente, Kobayashi Takaaki, Diekema Daniel J, Edmond Michael B, Bispo Paulo J M, Marra Alexandre R

机构信息

Faculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, São Paulo 05652-900, SP, Brazil.

Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo 05508-090, SP, Brazil.

出版信息

Viruses. 2025 May 26;17(6):757. doi: 10.3390/v17060757.

Abstract

: Infectious uveitis is a potentially sight-threatening condition that requires timely and accurate pathogen identification to guide effective therapy. However, conventional microbiological tests (CMTs) often lack sensitivity and the inclusiveness of pathogen detection. Metagenomic next-generation sequencing (mNGS) offers an unbiased approach to detecting a broad range of pathogens. This review evaluates its diagnostic performance in detecting infectious uveitis. : A systematic search across multiple databases identified studies assessing the use of mNGS for diagnosing infectious uveitis. The included studies compared mNGS to CMTs, including polymerase chain reaction (PCR), culture, serology, and the IGRA (Interferon-Gamma Release Assay). The study characteristics; the detection rates; and the sensitivity, specificity, and predictive values were extracted. The sensitivity and specificity of mNGS were calculated using CMTs as a reference. : Twelve studies comprising 859 patients were included. The sensitivity of mNGS compared to that of CMTs ranged from 38.4% to 100%, while specificity varied between 15.8% and 100%. The commonly detected pathogens included varicella-zoster virus, cytomegalovirus, , and herpes simplex virus. In some cases, mNGS outperformed PCR in viral detection, aiding diagnosis when the standard methods failed. However, contamination risks and inconsistent diagnostic thresholds were noted. : mNGS enables the diagnosis of infectious uveitis, particularly for viral causes, but its variable performance and standardization challenges warrant further investigation.

摘要

感染性葡萄膜炎是一种可能威胁视力的疾病,需要及时、准确地鉴定病原体以指导有效治疗。然而,传统微生物学检测(CMTs)往往缺乏病原体检测的敏感性和全面性。宏基因组下一代测序(mNGS)提供了一种无偏见的方法来检测多种病原体。本综述评估了其在检测感染性葡萄膜炎中的诊断性能。:通过对多个数据库进行系统检索,确定了评估mNGS用于诊断感染性葡萄膜炎的研究。纳入的研究将mNGS与CMTs进行了比较,包括聚合酶链反应(PCR)、培养、血清学和IGRA(干扰素-γ释放试验)。提取了研究特征、检测率以及敏感性、特异性和预测值。以CMTs为参照计算mNGS的敏感性和特异性。:纳入了12项研究,共859例患者。与CMTs相比,mNGS的敏感性在38.4%至100%之间,而特异性在15.8%至100%之间。常见检测到的病原体包括水痘-带状疱疹病毒、巨细胞病毒和单纯疱疹病毒。在某些情况下,mNGS在病毒检测方面优于PCR,在标准方法失败时有助于诊断。然而,注意到了污染风险和不一致的诊断阈值。:mNGS能够诊断感染性葡萄膜炎,特别是对于病毒感染原因,但它的可变性能和标准化挑战值得进一步研究。

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