宏基因组二代测序协助诊断重症立克次体感染一例并文献复习

Diagnosis of severe Rickettsial infection by metagenomic next-generation sequencing technology:a case report and literature review

立克次体感染是一种急性传染性疾病,多为自然疫源性。由于立克次体感染早期多表现为非特异性症状,如发热、皮疹、疼痛(多为四肢肌肉痛及头痛)等,且传统检验方法难以明确病原体,导致诊断困难,极易漏诊及误诊。本例患者以消化道症状起病,常规抗感染治疗效果不明显且病情迅速进展,出现多器官功能衰竭,后通过宏基因组二代测序(Metagenomic next-generation sequencing,mNGS)于外周血中检出日本立克次体病原体,并进行针对性治疗及支持治疗,病情好转出院。

Rickettsial infection is an acute infectious disease,mostly natural foci.The early manifestations of Rickettsial infection are non-specific symptoms,such as fever,rash,pain(mostly limb muscle pain and headache),and traditional examination methods are difficult to identify the pathogen,resulting in difficult diagnosis and easy to be missed and misdiagnosed.In this case,the patient started with gastrointestinal symptoms,the conventional antiinfective treatment was not effective,and the disease progressed rapidly,resulting in multiple organ failure.The pathogen of Rickettsia japonica was detected in peripheral blood by metagenomic next-generation sequencing(mNGS),and targeted treatment and supportive treatment were carried out.The patient was improved and discharged.