新一代测序诊断1例严重钩端螺旋体血清哥本哈根感染并用皮质类固醇治疗

W. Zeng, L. Liqiang, B. Yuhai, W. Fang, T. Jiansong, J. Yuan, Ji, L. Ong, L. Jianming, Z. Rongrong, N. Pei, J. Huijue, X. Liu, H. Wang, M. Jinmin, Yingxiao Liu
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引用次数: 1

摘要

钩端螺旋体病是一种世界性的人畜共患疾病,严重程度不一,累及多个器官。严重钩端螺旋体病具有高发病率和高死亡率,对人类健康构成极大威胁。由于传统的临床和实验室诊断方法的限制,包括钩端螺旋体病在内的许多传染病的病原体仍然未知。近年来,无偏次代测序(NGS)技术的发展,为难治性传染病的精确、快速诊断提供了新的思路,为及时治疗和可靠预后提供了重要依据。病例介绍:一名35岁男性在中国湖南省旅行后出现发烧并迅速累及肝、肾、肺。临床表现以黄疸-出血型开始,然后是黄疸-出血和弥漫性出血(PDH)临床型合并,并累及肝脏、心脏、肌肉和胰腺。采集血样进行血清学检测和病原特异性PCR检测,以确定疾病的病原。同时,采用血、痰标本进行下一代测序,检测出哥本哈根钩端螺旋体血清,确认病原为哥本哈根钩端螺旋体。基于精确的诊断,我们的病人在抗菌素治疗和支持性护理下逐渐康复。结论:NGS对该病例钩端螺旋体病的准确诊断起着至关重要的作用。根据可疑肺出血的诊断和临床体征,使用皮质类固醇联合抗生素治疗可减缓病情进展。无偏NGS将进一步应用于临床疾病诊断,特别是对不确定和未知病原体的诊断。
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A Severe Leptospira interrogans SerovarCopenhageni Infection Diagnosed by Next-Generation Sequencing and Treated withCorticosteroids
Introduction: Leptospirosis is a worldwide zoonotic disease, with variable severity and involvement of multiple organs. Severe leptospirosis is associated with high morbidity and mortality rates, which poses a great threat to human health. Due to the limitation of traditional clinical and laboratory diagnosis methods, pathogens for many infectious diseases, including leptospirosis, remain unknown. Recently, unbiased next generation sequencing (NGS) sheds light on the precise and rapid diagnosis of intractable infectious diseases, which is greatly beneficial to the prompt treatment and reliable prognosis. Case presentation: A 35 year old male got a fever with rapid hepato-renal-pulmonary involvement after his travel to Hunan province, China. The manifestations initiated with a jaundice-hemorrhage clinical type, and then followed by the combination of jaundice-hemorrhage and diffuse hemorrhage (PDH) clinical types, along with liver, heart, muscle and pancreas involvement. To identify the causative agent for the disease, blood sample was collected for serologicaltests, pathogen-specific PCR detection. Meanwhile, blood and sputum samples were used to do the nextgeneration sequencing, and the Leptospira interrogans serovar Copenhageni was detected and confirmed as the pathogenic agent. Based on the precise diagnosis, our patient recovered progressively with antimicrobials and supportive care. Conclusion: NGS played a critical role in the precise diagnosis of leptospirosis infection in this case. Corticosteroids combined with antibiotics treatments based on the diagnosis and clinical signs with suspicious pulmonary hemorrhage may decelerate the disease progression. The unbiased NGS would be further used in clinics for disease diagnosis especially for the uncertain and unknown pathogens.
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