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使用宏基因组下一代测序技术诊断极低出生体重儿巨细胞病毒感染:一例报告

Diagnosis of Cytomegalovirus infection in a very low birth weight infant using metagenomic next-generation sequencing: A case report.

作者信息

Zhao Chunhui, Li Huimin, Guo Li, Jia Menghan, Liu Jihong

机构信息

Neonatology Department, Shijiazhuang Fourth Hospital, Shijiazhuang, Hebei, China.

The Unit of Pathogenic Fungal Infection & Host Immunity, CAS Key Laboratory of Molecular Virology and Immunology, Shanghai Institute of Immunity and Infection, Chinese Academy of Sciences, Shanghai, China.

出版信息

Medicine (Baltimore). 2025 Sep 5;104(36):e44264. doi: 10.1097/MD.0000000000044264.

DOI:10.1097/MD.0000000000044264
PMID:40922265
Abstract

RATIONALE

Cytomegalovirus (CMV) is a DNA virus from the herpesvirus family that is widespread among humans. Very low birth weight infants (VLBWI) are particularly susceptible to postnatal CMV infection due to their compromised immune systems. The clinical manifestations of postnatal CMV infection are often nonspecific, which complicates early detection and may lead to multi-organ dysfunction and long-term sequelae.

PATIENT CONCERNS

A VLBWI developed unexplained persistent fever during hospitalization. Conventional diagnostic methods, including routine microbiological tests, failed to identify the causative pathogen.

DIAGNOSES

Metagenomic next-generation sequencing (mNGS) was performed and successfully identified CMV as the etiologic agent. Traditional diagnostic approaches were insufficient, but mNGS provided a comprehensive analysis of microbial nucleic acids, leading to a definitive diagnosis.

INTERVENTIONS

The patient received antiviral treatment with ganciclovir following the identification of CMV by mNGS.

OUTCOMES

After antiviral therapy, the fever resolved, and no long-term sequelae were observed during follow-up.

LESSONS

This case demonstrates the efficacy of mNGS as a powerful diagnostic tool for identifying the causes of unexplained infections in VLBWI. Compared with conventional methods, mNGS offers significant advantages, particularly in detecting a wide range of pathogens simultaneously. The successful diagnosis and treatment in this case underscore its clinical utility in managing complex neonatal infectious diseases.

摘要

原理

巨细胞病毒(CMV)是一种来自疱疹病毒科的DNA病毒,在人群中广泛存在。极低出生体重儿(VLBWI)由于免疫系统受损,特别容易发生出生后CMV感染。出生后CMV感染的临床表现通常不具有特异性,这使得早期检测变得复杂,并可能导致多器官功能障碍和长期后遗症。

患者情况

一名极低出生体重儿在住院期间出现不明原因的持续发热。包括常规微生物检测在内的传统诊断方法未能识别出致病病原体。

诊断

进行了宏基因组下一代测序(mNGS),并成功将CMV鉴定为病原体。传统诊断方法不够充分,但mNGS提供了对微生物核酸的全面分析,从而得出了明确的诊断。

干预措施

在通过mNGS鉴定出CMV后,患者接受了更昔洛韦抗病毒治疗。

结果

抗病毒治疗后,发热消退,随访期间未观察到长期后遗症。

经验教训

本病例证明了mNGS作为一种强大的诊断工具,可用于识别极低出生体重儿不明原因感染的病因。与传统方法相比,mNGS具有显著优势,特别是在同时检测多种病原体方面。本病例的成功诊断和治疗强调了其在处理复杂新生儿感染性疾病中的临床实用性。

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本文引用的文献

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Clinical Manifestations of Non-Congenital CMV Infection in Infants and Immunocompetent Children: Review of Cases from the Past Decade.婴儿和免疫功能正常儿童非先天性巨细胞病毒感染的临床表现:过去十年病例回顾
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先天性巨细胞病毒感染的诊断与管理。
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Long-term Outcomes after Postnatal Cytomegalovirus Infection in Low Birthweight Preterm Infants: A Systematic Review.低出生体重早产儿出生后巨细胞病毒感染的长期结局:系统评价。
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Congenital Cytomegalovirus Infection: Update on Diagnosis and Treatment.先天性巨细胞病毒感染:诊断与治疗的最新进展
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Cytomegalovirus as an immunomodulator across the lifespan.巨细胞病毒作为贯穿整个生命周期的免疫调节剂。
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