检验医学与临床2025，Vol.22Issue(9)：1282-1284,3.DOI:10.3969/j.issn.1672-9455.2025.09.025
宏基因组学二代测序诊断Q热心内膜炎合并癫痫1例的临床研究
Clinical study on metagenomic next-generation sequencing for diagnosing 1 case of Q fever endocarditis complicating epilepsy
摘要
Abstract
Objective To explore the application value of metagenomic next-generation sequencing(mNGS)in Q fever endocarditis that is difficult to be diagnosed by conventional detection methods.Methods One patient with infec-tive endocarditis and poor infection control for a long time visited in this hospital had many times of blood culture neg-ative.By combining with the patient's previous occupation,the blood samples were collected for conducting the mNGS testing.Using mNGS,endocarditis and Q fever as the keywords,the literatures from 2020 to 2024 published in the da-tabases such as CNKI,Wanfang,and PubMed were retrieved.Results The mNGS result of this patient showed 552 sequence numbers of Coxiella burnetii,21 sequence numbers of Torque teno virus,and 5 sequence num-bers of Candida,suggesting that Coxiella burnetii may cause infective endocarditis.By combining with the case analysis and literature review,the blood culture had a certain missed diagnosis rate in the patients with infec-tive endocarditis,and the standardized application of mNGS might effectively improve the etiological diagnosis efficiency of the patients with infective endocarditis.Conclusion Q fever endocarditis is a zoonotic disease caused by Coxiella burnetii.Due to its negative blood culture and not being covered by the empirical antibacte-rial spectrum of infective endocarditis,there are often many difficulties in clinical diagnosis and treatment.For infective endocarditis and other infectious diseases whose etiology cannot be clarified by conventional examina-tions,the rational use of mNGS can clarify the cause as soon as possible to assist in diagnosis and treatment.关键词
宏基因组学二代测序/贝纳柯克斯体/心内膜炎/血培养/Q热Key words
metagenomic next-generation sequencing/Bartonella quintana/endocarditis/blood cul-ture/Q fever分类
医药卫生引用本文复制引用
李源,张晓润,宋爽,陶臻..宏基因组学二代测序诊断Q热心内膜炎合并癫痫1例的临床研究[J].检验医学与临床,2025,22(9):1282-1284,3.基金项目
南京市中西医结合疫病研究中心科研基金资助项目(NCMIC-2022-07). （NCMIC-2022-07）
