European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
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Eur J Cardiothorac Surg · Jan 2020
Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.
The goal of this study was to investigate the prevalence of Birt-Hogg-Dubé (BHD) syndrome in patients with familial spontaneous pneumothorax (FSP) and the clinical characteristics of pneumothorax related to BHD syndrome compared with those of primary spontaneous pneumothorax. ⋯ BHD syndrome is one of the most common causes of FSP. Patients with FSP should be recommended for mutation screening for the FLCN gene to facilitate early diagnosis and proper intervention.