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HIV 阴性患者常染色体显性突变相关肺部感染的快速准确诊断:病例报告。

Rapid and precise diagnosis of pulmonary infection in a HIV-negative patient with autosomal-dominant mutation: a case report.

机构信息

Department of Respiratory Medicine, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medical, Hangzhou, Zhejiang, China.

Department of Respiratory Medicine, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medical, #261 Huansha Road, Hangzhou, 310006, Zhejiang Province, China.

出版信息

Ther Adv Respir Dis. 2020 Jan-Dec;14:1753466620929225. doi: 10.1177/1753466620929225.

DOI:10.1177/1753466620929225
PMID:32482141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7268139/
Abstract

BACKGROUND

, also named , is an opportunistic pathogen that can cause systemic or limited infection in human beings. This infection is especially common in human immunodeficiency virus (HIV)-infected hosts; however, it has also been recently reported in HIV-negative hosts. Here, we report a very rarely seen case of pulmonary infection in a non-HIV-infected patient with () mutation.

CASE PRESENTATION

A 34-year-old woman was admitted to our hospital for uncontrollable nonproductive cough and dyspnea with exercise. She had been immunocompromised since infancy. Computerized tomography scan showed multiple ground glass opacities with multiple bullae in both lungs. Next generation sequencing (NGS) of the bronchoalveolar lavage fluid identified nucleotide sequences. Culture of bronchoscopy specimens further verified the results. The patient was HIV negative, and blood gene detection indicated mutation. To date, following the application of itraconazole, the patient has recovered satisfactorily.

CONCLUSION

In clinical practice, infection among HIV-negative individuals is relatively rare, and we found that patients who are congenitally immunocompromised due to mutation may be potential hosts. Early diagnosis and timely treatment are expected to improve the prognosis of infection. NGS is a powerful technique that may play an important role in this progress. .

摘要

背景

卡氏肺孢子菌( ),又称肺孢子虫,是一种机会性致病病原体,可引起人类全身或局限性感染。这种感染在人类免疫缺陷病毒(HIV)感染宿主中尤为常见;然而,最近也有报道称在 HIV 阴性宿主中也会发生。在这里,我们报告了一例非常罕见的 HIV 阴性患者发生的 ( )突变相关肺孢子菌感染病例。

病例介绍

一名 34 岁女性因无法控制的非生产性咳嗽和运动性呼吸困难而入院。她从婴儿期开始就存在免疫功能低下。计算机断层扫描(CT)显示双肺多发性磨玻璃影和多个大疱。支气管肺泡灌洗液的下一代测序(NGS)鉴定出 核苷酸序列。支气管镜标本培养进一步验证了这一结果。该患者 HIV 检测结果为阴性,血液基因检测提示 突变。迄今为止,该患者在应用伊曲康唑后病情已明显好转。

结论

在临床实践中,HIV 阴性个体中的肺孢子菌感染相对较少,我们发现由于 突变而先天免疫功能低下的患者可能是潜在的宿主。早期诊断和及时治疗有望改善肺孢子菌感染的预后。NGS 是一种强大的技术,可能在此过程中发挥重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/ca447146fb6e/10.1177_1753466620929225-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/4911d6a8c14c/10.1177_1753466620929225-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/731aea6c8a4f/10.1177_1753466620929225-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/51db0e4c2bfb/10.1177_1753466620929225-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/ca447146fb6e/10.1177_1753466620929225-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/4911d6a8c14c/10.1177_1753466620929225-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/731aea6c8a4f/10.1177_1753466620929225-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/51db0e4c2bfb/10.1177_1753466620929225-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6962/7268139/ca447146fb6e/10.1177_1753466620929225-fig4.jpg

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