Department of Medicine, University of Hong Kong, Hong Kong, China.
Respirology. 2009 Jul;14(5):775-6. doi: 10.1111/j.1440-1843.2009.01558.x.
A Chinese woman presented with a spontaneous pneumothorax and a family history suggestive of the autosomal dominant transmission of pneumothorax. The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt-Hogg-Dube (BHD) syndrome. The importance of BHD syndrome and other familial spontaneous pneumothoraces is discussed.
一位中国女性患者出现自发性气胸，家族史提示气胸呈常染色体显性遗传。该患者还存在皮肤纤维毛囊瘤和滤泡素基因缺失，符合 Birt-Hogg-Dube（BHD）综合征。本文讨论了 BHD 综合征和其他家族性自发性气胸的重要性。
