Zhan Shaohua, Jin Haoyuan, Ji Hanbin, Hou Xin, Li Jing, Zhang Ye, Zheng Jiajia, Cui Liyan
Department of Laboratory Medicine, Peking University Third Hospital, Beijing, 100191, China.
Core Unit of National Clinical Research Center for Laboratory Medicine, Peking University Third Hospital, Beijing, 100191, China.
BMC Infect Dis. 2025 Feb 7;25(1):190. doi: 10.1186/s12879-024-10437-6.
Q fever is a zoonotic bacterial disease caused by Coxiella burnetii. Due to its variable and non-specific clinical symptoms, the disease is often overlooked and underreported. To date, the identification of C. burnetii as the causative pathogen of Q fever using targeted next-generation sequencing (tNGS) has not been previously documented.
tNGS was performed on patients with acute fever of unknown etiology, and qPCR was confirmed for C. burnetii infection.
tNGS was performed on 112 patients with acute fever of unknown etiology at Peking University Third Hospital between March 27 and September 20, 2024. C. burnetii was identified in blood samples from five patients, leading to a clinical diagnosis of Q fever. These diagnoses were subsequently confirmed by qPCR at the Beijing CDC. The mean age of the patients was 39.6 years (range: 32-59 years). Although blood cultures were negative, elevated infection markers (CRP, PCT, and ferritin) and liver enzymes (ALT, AST, GGT, ALP, and LDH) were observed. No epidemiological links to Q fever were identified in these cases. All five patients were treated promptly with oral doxycycline (0.1 g twice daily for 2 weeks) and discharged in improved health.
tNGS is a promising and significant tool for rapidly detecting C. burnetii infection.
Q热是一种由伯氏考克斯体引起的人畜共患细菌性疾病。由于其临床症状多变且不具特异性，该疾病常被忽视且报告不足。迄今为止，此前尚无使用靶向二代测序（tNGS）鉴定伯氏考克斯体作为Q热致病病原体的相关记录。
对病因不明的急性发热患者进行tNGS检测，并通过qPCR确认是否感染伯氏考克斯体。
2024年3月27日至9月20日期间，北京大学第三医院对112例病因不明的急性发热患者进行了tNGS检测。在5例患者的血样中鉴定出伯氏考克斯体，从而临床诊断为Q热。这些诊断随后在北京疾病预防控制中心通过qPCR得到确认。患者的平均年龄为39.6岁（范围：32 - 59岁）。尽管血培养结果为阴性，但观察到感染标志物（CRP、PCT和铁蛋白）及肝酶（ALT、AST、GGT、ALP和LDH）升高。在这些病例中未发现与Q热的流行病学关联。所有5例患者均立即接受口服多西环素治疗（0.1 g，每日两次，共2周），出院时健康状况有所改善。
tNGS是快速检测伯氏考克斯体感染的一种有前景且重要的工具。
