宏基因二代测序协助诊断毛霉菌病一例并文献复习

Metagenomics next-generation sequencing for assisting the diagnosis of mucormycosis:a case report and literature review

目的:探讨宏基因二代测序(mNGS)协助诊断侵袭性真菌病的临床应用价值,为临床诊断和治疗毛霉菌病提供病原学依据。方法:通过mNGS技术检测1例患有不明原因肺部感染者的肺泡灌洗液以确定病原体,并根据mNGS检测报告调整其治疗方案。结果:患者间断胸痛、咳嗽5月余,胸部CT示双肺呈多发性阴影伴空洞形成,肺组织活检提示凝固性坏死,常规实验室及病原学检查均未见异常,行多种抗感染治疗方案均未见明显好转,后取肺泡灌洗液送检mNGS提示病原体为总状横梗霉菌,改用两性霉素B行抗感染治疗后,患者感染病灶缩小,症状明显缓解。结论:mNGS是鉴定罕见病原体的重要辅助诊断方法,对协助诊断肺部侵袭性真菌病具有重要意义。

Objective To explore the clinical application value of metagenomics nextgeneration sequencing(mNGS)in assisting the diagnosis of invasive fungal diseases,and to provide pathogenic evidence for the clinical diagnosis and treatment of mucormycosis.Methods The alveolar lavage fluid of a patient with unexplained lung infection was detected by mNGS to determine the pathogen,and the treatment plan was adjusted according to the mNGS test report.Results The patient had intermittent chest pain and cough for longer than 5 months.The chest CT showed multiple shadows and cavities in both lungs.There was no abnormality in routine laboratory and pathogenic examinations,and no significant improvement was found after various anti-infection treatments.The mNGS of alveolar lavage fluid submitted for examination revealed that the pathogen was Lichtheimia ramose.After switching to amphotericin B for anti-infection treatment,the patient’s infected lesions shrank and the symptoms relieved significantly.Conclusions mNGS is an important auxiliary diagnostic method to identify rare pathogens,which is of great significance to assist the diagnosis of lung invasive mycosis.