宏基因组学诊断播散型组织胞浆菌病1例

Disseminated histoplasmosis diagnosed by mNGS in an immunocompetent individual: a case report

播散型组织胞浆菌病是一种进行性肺外疾病好发于免疫缺陷者。该病诊断的应结合组织胞浆菌病的高危因素(免疫抑制剂、高龄、高风险的暴露等)与临床表现。本文报道一例播散型组织胞浆菌病但免疫功能健全的病例,其表现为亚急性起病,后期病程进展迅速,骨髓涂片及宏基因测序诊断为播散型组织胞浆菌病。予以两性霉素B去氧胆酸盐及伊曲康唑治疗后病情明显好转。

Histoplasmosis is a common endemic mycosis that is usually asymptomatic but occasionally results in severe illness. Histoplasmosis and its causative agent, Histoplasma capsulatum, are found worldwide and particularly in North and Central America. Disseminated histoplasmosis is a progressive extrapulmonary infection. The diagnosis of disseminated histoplasmosis should be suspected in patients with risk factors for disease(e. g., immunosuppression or extremes of age and risk factors for exposure) in combination with clinical manifestations that are consistent with disseminated histoplasmosis. We reported a case of disseminated histoplasmosis in an immunocompetent individual. The case was subacute with rapid progress in the later stage. It was diagnosed by bone marrow smear and metagenomic next-generation sequencing(mNGS). The patient improved after treatment by Amphotericin B deoxycholate and itraconazole. With the increasing reports of disseminated histoplasmosis in China, the clinicians should give careful attention to the disease. The epidemiological status, clinical manifestations, diagnostic criteria and treatment principle of disseminated histoplasmosis were summarized in this paper.