支气管肺泡灌洗液宏基因组学测序诊断惠普尔病1例报道并文献复习

Whipple's disease diagnosed by meta-genomics next-generation sequencing of bronchoalveolar lavage fluid:a case report

本文报道1例44岁男性患者,主因不明原因高热、头痛就诊,影像学提示右肺上叶感染,支气管肺泡灌洗液的宏基因组学下一代测序提示惠普尔养障体感染,既往有葡萄膜炎、慢性腹泻、体质量减轻、多关节痛病史,诊断惠普尔病。院内及出院后序贯抗感染治疗3月余,临床症状明显改善,继续治疗中。惠普尔养障体属于放线菌纲、放线菌目、纤维素单胞菌科,革兰阳性,可引起慢性多器官感染,肺部受累少见。该病发病率低,临床表现多样且缺乏特异性,不易早期诊断,误诊及漏诊后致死率高。支气管肺泡灌洗液的宏基因组学下一代测序有助于提高肺部感染为主的惠普尔病的诊断率。

A 44-year-old male patient dominated by high fever and headache for unknown reason was reported in the paper,infections in the upper lobe of the right lung were noted in images,and the meta-genomics next generation sequencing(mNGS)of bronch-oalveolar lavage fluid(BALF)showed Tropheryma whipplei(T.whipplei)infection with the patient,who had the history of uveitis,chronic diarrhea,weight loss,multiple joint pain and was diagnosed to have Whipple′s disease(WD).The patient receiving sequential anti-infective therapy for over 3 months in nosocomial stay and upon discharge was found to have significant improved clinical symptoms and continued therapy.T.whipplei,classified to be Actinomycetes,Actinomycetes,Cellulomonas family,Gram-positive,may cause chronic multi-organ infection,and rarely results in pulmonary involvement.WD was found to have low morbidity,and it was clinically manifested to be diverse,nonspecific,difficult in early diagnosis,and high mortality after misdiagnosis and missed diagnosis.mNGS of BALF contributed to improving the diagnosis rate of WD dominated by pulmonary infection.