家族歴よりBirt-Hogg-Dubé（BHD）症候群と診断した気胸の1例

Pneumothorax with Birt-Hogg-Dubé Syndrome Diagnosed by Family History：Report of a Case

はじめに　Birt-Hogg-Dubé（BHD）症候群は線維性毛包腫，多発性肺囊胞，腎腫瘍を3徴とするまれな常染色体優性遺伝疾患である．われわれは，家族歴にBHD症候群による気胸を有することから確定診断にいたった症例を経験したので報告する．

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.