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

作　　者：李源 张晓润 宋爽[1] 陶臻[1] LI Yuan;ZHANG Xiaorun;SONG Shuang;TAO Zhen(Department of Infectious Diseases,Affiliated Nanking Hospital,Nanjing Medical University/Nanjing Municipa First Hospital,Nanjing,Jiangsu 210006,China)

机构地区：[1]南京医科大学附属南京医院/南京市第一医院感染性疾病科,江苏南京210006

出　　处：《检验医学与临床》2025年第9期1282-1284,共3页Laboratory Medicine and Clinic

基　　金：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)。

摘　　要：目的探讨宏基因组学二代测序(mNGS)在常规检测方法难以诊断的Q热心内膜炎中的应用价值。方法于该院就诊的1例感染性心内膜炎患者长期感染控制不佳,且多次血培养结果阴性,结合患者既往职业,采集血标本进行mNGS检测。以mNGS、心内膜炎和Q热为关键词,对中国知网、万方数据库、PubMed数据库2020-2024年发表的文献进行文献检索。结果该患者mNGS结果显示贝纳柯克斯体552序列数,细环病毒21序列数,念珠菌5序列数,提示贝纳柯克斯体引起感染性心内膜炎可能。结合病例分析和文献复习,血培养在感染性心内膜炎患者存在一定漏诊率,规范应用mNGS可有效提升感染性心内膜炎患者病原学诊断效率。结论Q热心内膜炎是一种由贝纳柯克斯体引起的人畜共患疾病,因其血培养阴性且不被感染性心内膜炎经验性抗菌谱所覆盖,在临床诊治方面常常存在许多困难。对于常规检查无法明确病原学的感染性心内膜炎及其他感染性疾病,合理应用mNGS可以尽早明确病因,协助诊治。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 infective endocarditis and poor infection control for a long time visited in this hospital had many times of blood culture negative.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 databases 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 numbers 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 infective 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 antibacterial 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 examinations,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 

分 类 号：R446.5[医药卫生—诊断学] R513.4[医药卫生—临床医学]