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杜娆, 冯宇, 刘丽娜, 等. 宏基因组测序辅助HIV感染者发热待查的病原学诊断1例报告[J]. koko体育app 学报（医学版）, 2020, 51(2): 257-260. DOI:
引用本文: 杜娆, 冯宇, 刘丽娜, 等. 宏基因组测序辅助HIV感染者发热待查的病原学诊断1例报告[J]. koko体育app 学报（医学版）, 2020, 51(2): 257-260. DOI:
DU Rao, FENG Yu, LIU Li-na, et al. Pathogen Diagnosis of a Febrile HIV Case by the Metagenomic Next-generation Sequencing[J]. Journal of Sichuan University (Medical Sciences), 2020, 51(2): 257-260. DOI:
Citation: 💎 DU Rao, FENG Yu, LIU Li-na, et al. Pathogen Diagnosis of a Febrile HIV Case by the Metagenomic Next-generation Sequencing[J]. Journal of Sichuan University (Medical Sciences), 2020, 51(2): 257-260. DOI:

宏基因组测序辅助HIV感染者发热待查的病原学诊断1例报告

Pathogen Diagnosis of a Febrile HIV Case by the Metagenomic Next-generation Sequencing

  • 摘要: 探讨宏基因组测序（metagenomic next-generation sequencing，mNGS）技术在发热待查中的诊断应用价值。发热待查一直是临床诊治难点，本研究中1例人类免疫缺陷病毒（HIV）感染者反复发热2+月，经涂片、5次外周血培养和1次骨髓培养、血清学和病理检查等常规病原微生物检测未发现病因。分别取淋巴结进行广谱聚合酶链式反应（polymerase chain reaction，PCR)检测和取外周血进行mNGS检测；广谱PCR和mNGS检测结果均确定病原菌为马尔尼菲篮状菌。追加外周血培养（并延长培养时间）最终获得菌株，并行全基因组测序。mNGS与之比较，全基因组序列查见耐药基因FLU1，但mNGS未能检出；全基因组序列显示该菌株与NCBI数据库中的已知菌株均没有亲缘关系，而mNGS因病原体数据量不够而不能做亲缘关系分析。本研究报告了1例应用mNGS诊断马尔尼菲蓝状菌感染的病例，表明mNGS能在辅助HIV感染者发热待查的病原学诊断中发挥重要作用，但mNGS的耐药基因检测和病原体溯源等功能尚需后续发展。  
    Abstract: This study is aimed to explore the value of metagenomic next-generation sequencing (mNGS) in diagnosing pathogen in fever patients. It is often a challenge to identify the pathogen that caused the infection in the HIV patients with fever. How could the mNGS be helpful for pathogen diagnosis is unclear. Here we reported a case of human immunodeficiency virus (HIV) patient with 2-month period of fever. After routine clinical laboratory tests including the conventional smear, culture, serological tests and pathological examinations, the causal pathogen still remained undiagnosed. Then the lymph node biopsy tissue was subjected to broad-range polymerase chain reaction (PCR) and the peripheral blood was subjected to mNGS. At the same time, peripheral blood culture was carried out with an extension of culture time to acquire the pathogen. Results from both broad-range PCR and mNGS revealed the pathogen was Talaromyces marneffei. The isolate recovered from the peripheral blood culture was subjected to the whole-genome sequencing. Whole genome sequencing revealed that the antimicrobial resistance gene FLU1 existed in this pathogen’s genome, but mNGS did not detect the FLU1 gene. Phylogenetic analysis based on whole genome sequence revealed that this isolate was far from other clones published in NCBI database. Here we reported a case of Talaromyces marneffei infection diagnosed by mNGS, showing that mNGS is helpful in etiological diagnosis for HIV patients with unexplained fever. However, application of mNGS in antimicrobial resistant genes detection and pathogen tracing need to be well-studied in the future.  
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