Q fever diagnosed using metagenomic next-generation sequencing in Guangdong Province, China

Q fever is a zoonotic disease caused by infection with Coxiella burnetii (C. burnetii). Due to its atypical symptoms and the absence of specific detection methods, Q fever is underdiagnosed commonly. Herein, we report a case of Q fever confirmed by metagenomic next-generation sequencing (mNGS) in March 2024 in Guangdong Province, China. The patient initially experienced fever and was admitted to hospital six days later. Despite a series of laboratory tests conducted at the hospital, the pathogen remained undetermined. Ten days after admission, mNGS revealed that the patient was infected with C. burnetii. The patient subsequently underwent treatment with doxycycline and recovered well. Epidemiological investigation revealed that the patient had been exposed to sheep infected with C. burnetii without any protective measures in Jiangxi Province, China. Based on the comprehensive results of mNGS, exposure history, clinical manifestations and treatment response, the patient was confirmed as a Q fever case. As a neglected and underestimated illness, Q fever necessitates an elevation in awareness among medical staff and the public. The public should be encouraged to take personal protective measures when exposed to livestock. Further research is needed to explore the rational application of mNGS in the diagnosis of uncommon and unknown diseases.