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病例报告与文献综述:通过宏基因组下一代测序诊断播散性组织胞浆菌病感染

Case Report and Literature Review: Disseminated Histoplasmosis Infection Diagnosed by Metagenomic Next-Generation Sequencing.

作者信息

Wang Neng, Zhao Conglin, Tang Congchen, Wang Lichun

机构信息

Center of Infectious Diseases, West China Hospital, Sichuan University, Chengdu, People's Republic of China.

出版信息

Infect Drug Resist. 2022 Aug 12;15:4507-4514. doi: 10.2147/IDR.S371740. eCollection 2022.

Abstract

BACKGROUND

Histoplasmosis is a deep fungal infection caused by and can be classified as pulmonary, disseminated or central. Disseminated histoplasmosis is the most dangerous of all clinical types and is characterized by rapid onset, rapid progression, high mortality, and difficulty in diagnosis and treatment.

CASE PRESENTATION

This report describes a 31-year-old female who presented with fever, with a maximum temperature of 39.8 °C. There were no concomitant symptoms, such as cough, sputum, abdominal pain and diarrhoea, before the onset of fever, and the illness lasted for more than 20 days. On examination, the liver and spleen were enlarged, and laboratory tests showed a significant decrease in CD4 cell count, suggesting immune deficiency. Broad-spectrum antibiotic treatment was ineffective, and specific infectious diseases and haematological neoplasms were considered likely. She was finally diagnosed with disseminated histoplasmosis after undergoing bone marrow aspiration and metagenomic next-generation sequencing (mNGS) and was treated with amphotericin B, fluorouracil and itraconazole, with good results.

CONCLUSION

This case demonstrates that disseminated histoplasmosis infection can present with unexplained fever and that mNGS can be an important complement to bone marrow aspiration for the diagnosis of this disease.

摘要

背景

组织胞浆菌病是由[病原体名称未给出]引起的深部真菌感染,可分为肺型、播散型或中枢型。播散型组织胞浆菌病是所有临床类型中最危险的,其特点是起病急、进展快、死亡率高,且诊断和治疗困难。

病例报告

本报告描述了一名31岁女性,出现发热,最高体温达39.8℃。发热前无咳嗽、咳痰、腹痛、腹泻等伴随症状,病程持续20多天。检查发现肝脾肿大,实验室检查显示CD4细胞计数显著下降,提示免疫缺陷。广谱抗生素治疗无效,考虑可能为特定传染病和血液系统肿瘤。她最终在接受骨髓穿刺和宏基因组下一代测序(mNGS)后被诊断为播散型组织胞浆菌病,并接受了两性霉素B、氟尿嘧啶和伊曲康唑治疗,效果良好。

结论

该病例表明,播散型组织胞浆菌病感染可表现为不明原因发热,且mNGS可作为骨髓穿刺诊断该病的重要补充。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7217/9380729/a5489bd31e3e/IDR-15-4507-g0001.jpg

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