Kita Hidefumi, Onda Takato, Yoshida Tsutomu
Department of Thoracic Surgery, Tokorozawa Central Hospital, Tokorozawa, Japan.
Kyobu Geka. 2023 May;76(5):409-411.
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal and predominantly inherited disorder. A 43 year-old woman was admitted to our hospital for right spontaneous pneumothorax and the thoracoscopic pulumonary wedge resection was performed. A chest computed tomography (CT) scan before surgery showed multiple bilatetal thin walled pulmonary cysts predominant to the lower mediastinum side of the lung field. Since her brother had history of pneumothorax with BHD syndrome. Diagnosed by deoxyribonucleic acid (DNA) sequence analysis of his BHD gene, she was diagnosed as BHD syndrome.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体显性遗传性疾病。一名43岁女性因右侧自发性气胸入院，接受了胸腔镜肺楔形切除术。术前胸部计算机断层扫描（CT）显示双侧多个薄壁肺囊肿，主要位于肺野下纵隔侧。由于她的哥哥有BHD综合征伴气胸病史，通过对其BHD基因的脱氧核糖核酸（DNA）序列分析，她被诊断为BHD综合征。
