关键词: Aspergillus tracheobronchitis Birt-Hogg-Dubé syndrome Case report Chronic cough Multiple lung cysts

Mesh : Humans Middle Aged Birt-Hogg-Dube Syndrome / complications diagnosis genetics Cough / etiology Neoplasm Recurrence, Local Bronchitis Germ-Line Mutation

来  源:   DOI:10.1186/s12890-022-02136-2

Abstract:
BACKGROUND: Aspergillus tracheobronchitis (ATB) is confined as a condition of chronic superficial infection of tracheobronchial tree. Its diagnosis is difficult due to atypical manifestations and low detective rate of Aspergillus thus far.
METHODS: Herein, we presented a 45-year-old male patient with a sole chronic productive cough for five years referred to our cough specialist clinic. Chest high-resolution computed tomography showed multiple lung cysts predominantly located in the subpleural lesions and near the mediastinum. Neither bacteria nor fungi were identified by sputum culture. However, metagenomic next-generation sequencing in sputum detected Aspergillus fumigatus DNA. The genetic testing of whole blood suggested the germline mutation of the tumor suppressor gene folliculin, supporting a diagnosis of Birt-Hogg-Dubé (BHD) syndrome. His productive cough symptom significantly improved after receiving itraconazole treatment for 2 months. After discontinuation of antifungal treatment, there was no relapse for four months follow-up. A diagnosis of ATB with BHD syndrome was eventually established in this patient.
CONCLUSIONS: ATB should be considered in any patient with prolonged unexplained productive cough. Next-generation sequencing technologies may be useful to identify ATB which is uncommon and easily ignored in clinical practice.
摘要:
背景:气管支气管炎曲霉(ATB)仅限于气管支气管树的慢性浅表感染。迄今为止,由于曲霉菌的非典型表现和低检出率,其诊断困难。
方法:这里,我们向我们的咳嗽专科诊所介绍了一名45岁的男性患者,该患者患有5年的慢性咳嗽。胸部高分辨率计算机断层扫描显示多个肺囊肿主要位于胸膜下病变和纵隔附近。痰培养均未发现细菌或真菌。然而,宏基因组下一代测序在痰中检测到烟曲霉DNA。全血基因检测提示肿瘤抑制基因Foliculin的种系突变,支持Birt-Hogg-Dubé(BHD)综合征的诊断。接受伊曲康唑治疗2个月后,他的咳嗽症状显着改善。停止抗真菌治疗后,随访4个月无复发.最终在该患者中确定了ATB伴BHD综合征的诊断。
结论:任何长期原因不明的排痰患者都应考虑使用ATB。下一代测序技术可用于鉴定在临床实践中不常见且容易被忽略的ATB。
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