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通过宏基因组下一代测序诊断一名患者的急性Q热:病例报告

Diagnosis of Acute Q Fever in a Patient by Using Metagenomic Next-Generation Sequencing: A Case Report.

作者信息

Wang Dong, Zhang Litao, Cai Zhifang, Liu Yumei

机构信息

Department of Clinical Laboratory, Wuhan Asia General Hospital, Wuhan Asia General Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, Hubei Province, 430056, People's Republic of China.

Pulmonary and Critical Care Medicine, Hankou Hospital of Wuhan, Hankou Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, Hubei Province, 430012, People's Republic of China.

出版信息

Infect Drug Resist. 2023 Mar 31;16:1923-1930. doi: 10.2147/IDR.S405697. eCollection 2023.

DOI:10.2147/IDR.S405697
PMID:37025192
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10072143/
Abstract

BACKGROUND

Q fever is a zoonotic disease caused by infection, with domestic ruminants as the main source of infection and tick bites as one of the transmission vectors. The clinical manifestations of Q fever are varied and atypical. For the reason that is a strictly intracellular pathogen, it is difficult to be diagnosed by traditional culture methods. Additionally, serological and molecular diagnostic methods to assist in the diagnosis of Q fever are not routinely performed in most clinical laboratories. Therefore, early and rapid diagnosis of Q fever is a challenge.

CASE PRESENTATION

In the present study, a 34-year-old male patient presented with an acute onset and symptoms such as high fever, lethargy, pulmonary infection, and liver damage. In addition, he had a history of tick bites. Despite conducting relevant laboratory and radiological examinations, the etiology remained unknown. Subsequently, we detected the sequence reads of in a venous blood sample using metagenomic next-generation sequencing (mNGS), and the symptoms of patients were significantly improved after timely treatment with the special drug tetracycline. To our knowledge, this is the first report of Q fever associated with detected directly from venous blood sample in Wuhan, China.

CONCLUSION

Metagenomic next-generation sequencing is a new diagnostic technology that provides rapid and accurate detection of unexplained infections, including Q fever. Its application plays a crucial role in clinical diagnosis for identifying elusive pathogens.

摘要

背景

Q热是一种由感染引起的人畜共患病,以家养反刍动物为主要传染源,蜱叮咬是传播媒介之一。Q热的临床表现多样且不典型。由于其是一种严格的细胞内病原体,传统培养方法难以诊断。此外,大多数临床实验室并不常规开展有助于Q热诊断的血清学和分子诊断方法。因此,Q热的早期快速诊断是一项挑战。

病例报告

在本研究中,一名34岁男性患者急性起病,出现高热、嗜睡、肺部感染和肝损伤等症状。此外,他有蜱叮咬史。尽管进行了相关实验室和影像学检查,但病因仍不明。随后,我们使用宏基因组下一代测序(mNGS)在一份静脉血样本中检测到该病原体的序列读数,患者经特殊药物四环素及时治疗后症状明显改善。据我们所知,这是中国武汉首例直接从静脉血样本中检测到该病原体所致Q热的报告。

结论

宏基因组下一代测序是一种新的诊断技术,可快速准确地检测包括Q热在内的不明原因感染。其应用在临床诊断中对于识别难以捉摸的病原体起着至关重要的作用。

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