诊断学理论与实践

诊断学理论与实践 ›› 2026, Vol. 25 ›› Issue (03): 315-320.doi: 10.16150/j.1671-2870.2026.03.007

• 论著 • 上一篇    下一篇

不典型流行区7例恙虫病患者的临床表现及宏基因组与靶向二代测序的应用

李琼a, 刘富强a, 邱罗平a, 李少芬a, 姚利飞a, 彭卫a, 范家亮b, 徐仙赟a()   

  1. a 吉安市中心人民医院 医学检验科 江西 吉安 343000
    b 吉安市中心人民医院 呼吸与危重症医学科， 江西 吉安 343000
  • 收稿日期:2026-01-17 修回日期:2026-05-13 接受日期:2026-05-18 出版日期:2026-06-25 发布日期:2026-06-27
  • 通讯作者: 徐仙赟 E-mail：xuxianyun_1982@163.com
  • 作者简介:作者贡献/Authors’ Contributions

    李琼进行病例收集、数据采集、分析/解析，论文撰写；刘富强、邱罗平、姚利飞、彭卫、李少芬进行病例检测、数据采集及检验学诊断；范家亮参与论文病例讨论；徐仙赟指导论文写作和修改，并对文章的知识性内容作批评性审阅。

  • 基金资助:
    2025年度吉安市科技计划项目(吉财教指[2025]76号);吉安市科技计划指导性项目(20255-031252)

Clinical manifestations of scrub typhus in atypical endemic areas and application of metagenomic and targeted next-generation sequencing： an analysis of seven cases

LI Qionga, LIU Fuqianga, QIU Luopinga, LI Shaofena, YAO Lifeia, PENG Weia, FAN Jialiangb, XU Xianyuna()   

  1. a Laboratory Medicine Department, Ji'an Central People's Hospital, Jiangxi Ji'an 343000, China
    b Respiratory and Critical Care Medicine Department, Ji'an Central People's Hospital, Jiangxi Ji'an 343000, China
  • Received:2026-01-17 Revised:2026-05-13 Accepted:2026-05-18 Published:2026-06-25 Online:2026-06-27

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摘要：

目的：总结不典型流行区恙虫病患者的临床特征，并探讨宏基因组二代测序（metagenomic next-generation sequencing， mNGS）及靶向二代测序（targeted next-generation sequencing， tNGS）在病原学诊断中的应用价值。方法：回顾性分析2025年5月至2026年1月间，吉安市中心人民医院经二代测序（next-generation sequencing， NGS）确诊的7例恙虫病患者的临床资料。其中，以呼吸道症状或肺部感染为主要表现者采用tNGS检测（3例），以脓毒症或全身性感染为主要表现者采用mNGS检测（4例）。收集患者临床表现、实验室检查、NGS结果、诊断时间及治疗转归等资料。结果：7例患者中男性4例，女性3例，中位年龄69岁。所有患者均因高热起病，仅1例存在典型焦痂。5例患者存在血小板减少，7例患者均存在C反应蛋白升高及肝功能异常。NGS均于送检后24~72 h内检出恙虫病东方体序列。患者自入院至获得病原学结果时间为2~4 d，中位时间3 d。根据NGS结果调整为多西环素或米诺环素治疗后，患者体温于1~3 d内恢复正常，中位退热时间2 d，全部患者均治愈出院。结论：不典型流行区恙虫病患者临床表现缺乏特异性，易误诊、漏诊。对于经验性抗感染治疗无效、病因未明的高危发热患者，NGS可作为重要的补充诊断手段。适时送检NGS可实现快速病原学精准识别，为后续调整精准抗感染方案提供关键依据。

关键词: 恙虫病东方体, 二代测序, 不典型地区

Abstract:

Objective This study aims to summarize the clinical characteristics of patients with scrub typhus in atypical epidemic areas, and explore the application value of metagenomic next-generation sequencing (mNGS) and targeted next-generation sequencing (tNGS) in etiological diagnosis. Methods A retrospective analysis was conducted on the clinical data of seven patients with scrub typhus diagnosed by next-generation sequencing (NGS) at Ji'an Central People's Hospital from May 2025 to January 2026. Among them, three patients with respiratory symptoms or lung infection as the main manifestation underwent tNGS testing, while four patients with sepsis or systemic infection as the main manifestation underwent mNGS testing. Data on the patients' clinical manifestations, laboratory tests, NGS results, diagnosis time, and treatment outcomes were collected. Results Among the seven patients, four were male and three were female, with a median age of 69 years. All patients presented with high fever as the initial symptom, and only one patient exhibited typical eschar. All seven patients had elevated C-reactive protein levels, five of whom also had thrombocytopenia, and all seven had abnormal liver function. NGS detected Orientia tsutsugamushi sequences within 24 to 72 hours after sample submission. The duration from patient admission to obtaining etiological results ranged from 2 to 4 days, with a median of 3 days. After treatment with doxycycline or minocycline adjusted based on NGS results, the patients' temperatures returned to normal within 1 to 3 days, with a median fever reduction time of 2 days. All patients were cured and discharged. Conclusions Patients with scrub typhus in atypical epidemic areas often exhibit nonspecific clinical manifestations, making them prone to misdiagnosis and missed diagnoses. For high-risk febrile patients who fail to respond to empirical anti-infective treatment and have unidentified causes, NGS can serve as an important supplementary diagnostic tool. Timely NGS testing can facilitate rapid and precise identification of pathogens, providing crucial evidence for subsequent adjustments to targeted anti-infective regimens.

Key words: Orientia tsutsugamushi, Next-generation sequencing, Atypical areas

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