关键词: Coxiella burnetiid Q fever, pneumonia diagnosis mNGS metagenomic next-generation sequencing

Mesh : Humans High-Throughput Nucleotide Sequencing Q Fever / diagnosis drug therapy microbiology Coxiella burnetii / genetics isolation & purification Metagenomics / methods Male Pneumonia, Bacterial / diagnosis microbiology drug therapy Anti-Bacterial Agents / therapeutic use Doxycycline / therapeutic use Bronchoalveolar Lavage Fluid / microbiology Middle Aged Tomography, X-Ray Computed

来  源:   DOI:10.3855/jidc.18314

Abstract:
BACKGROUND: Q fever, a zoonotic disease caused by Coxiella burnetii (C. burnetii), presents diagnostic challenges due to its clinical and radiological nonspecificity, which often mimics community-acquired pneumonia, coupled with the limitations of traditional diagnostic methods. Metagenomic next-generation sequencing (mNGS) has become an indispensable tool in clinical diagnostics for its high-throughput pathogen identification capabilities. Herein, we detail a case of acute Q fever pneumonia diagnosed with mNGS.
METHODS: The patient exhibited symptoms of fever, cough, expectoration, and diarrhea for three days, with the pathogen undetected in initial laboratory assessments. Bronchoscopy and bronchoalveolar lavage (BAL) were conducted, leading to the identification of C. burnetii in the lavage fluid via mNGS. Consequently, the patient was promptly initiated on a treatment regimen of 100 mg doxycycline, administered orally every 12 hours.
RESULTS: Post-treatment, the patient\'s temperature normalized, and a full recovery was observed. The follow-up chest CT scan revealed complete resolution of the right lower lobe consolidation.
CONCLUSIONS: The clinical presentation of Q fever pneumonia lacks specificity, making diagnosis based solely on symptoms and imaging challenging. mNGS offers a superior alternative for identifying elusive or rarely cultured pathogens.
摘要:
背景:Q发烧,一种由伯氏柯西氏菌引起的人畜共患疾病(C.burnetii),由于其临床和放射学非特异性,提出了诊断挑战,通常模仿社区获得性肺炎,再加上传统诊断方法的局限性。宏基因组下一代测序(mNGS)因其高通量病原体识别能力而成为临床诊断中不可或缺的工具。在这里,我们详细介绍了一例诊断为mNGS的急性Q热肺炎。
方法:患者出现发热症状,咳嗽,咳痰,腹泻三天,在最初的实验室评估中未发现病原体。进行支气管镜检查和支气管肺泡灌洗(BAL),通过mNGS鉴定灌洗液中的C.burnetii。因此,患者立即开始接受100mg多西环素的治疗方案,每12小时口服给药。
结果:治疗后,病人的体温恢复正常,观察到完全恢复。随访胸部CT扫描显示右下叶巩固完全消退。
结论:Q热肺炎的临床表现缺乏特异性,仅根据症状和影像学做出诊断具有挑战性。mNGS为识别难以捉摸或很少培养的病原体提供了优越的替代方法。
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