PDF(Pubmed)
Abstract：
Birt-Hogg-Dubé syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lung cysts. However, the long-term effects of cigarette smoking on lung function among individuals with BHD are unknown. We report a case of a smoking individual diagnosed with BHD syndrome complicated by spontaneous pneumothorax and severe airway obstruction. The patient presented with chronic dyspnea and productive cough. Further work-up revealed severe obstructive airflow limitation, and multiple lung cysts in both lungs, accompanied centrilobular emphysematous changes. Genetic testing confirmed a heterozygous deletion of exons 6-8 in the folliculin gene, confirming the diagnosis of BHD.
摘要：
Birt-Hogg-Dubé综合征（BHD）通常不表现为气道阻塞，尽管存在多个肺囊肿。然而,吸烟对BHD患者肺功能的长期影响尚不清楚.我们报告了一例被诊断为BHD综合征并伴有自发性气胸和严重气道阻塞的吸烟者。患者表现为慢性呼吸困难和生产性咳嗽。进一步检查发现严重的阻塞性气流受限，两肺有多个肺囊肿,伴有小叶中心气肿改变。基因检测证实了foliculin基因中外显子6-8的杂合缺失，确认BHD的诊断。
