特発性血気胸を契機に発見されたBirt-Hogg-Dubé症候群の1例

Birt-Hogg-Dubé Syndrome Incidentally Found at Surgery for Idiopathic Hemopneumothorax；Report of a Case

はじめに　特発性血気胸は，緊急手術となる場合が多い．われわれは特発性血気胸として緊急手術となり，このときの手術所見で臓側胸膜に多発する小さな薄壁囊胞を認め，Birt-Hogg-Dubé症候群（BHDS）を疑う症例を経験したので報告する．

We suspected Birt-Hogg-Dubé syndrome （BHDS） from intraoperative findings of emergency operation for idiopathic hemopneumothorax. A 34-year-old man was delivered to our center due to sudden chest pain and dyspnea. Under the diagnosis of hemopneumothorax, emergency operation was performed. During surgery, multiple thin wall lung cysts of 2 to 5 mm in size were observed on the surface of all lung lobes. BHDS was suspected, but the surgery was limited to hemostasis and resection of pulmonary cyst since the diagnosis had not been established. Postoperative chest computed tomography （CT） revealed irregular shaped pulmonary cyst on the interlobar, mediastinal and diaphragm surface. Genetic analysis showed deletion in the folliculin gene confirming the diagnosis of BHDS.