Clinical characteristics and genetic analysis of familial spontaneous pneumothorax in China

Abstract Familial spontaneous pneumothorax (FSP) is a hereditary disease, and Birt-Hogg-Dubé (BHD) syndrome is its main cause. FSP is an autosomal dominant genetic disease related to folliculin (FLCN). The goal of this study was to investigate the clinical characteristics and possible causes of FSP in China compared with those of primary spontaneous pneumothorax (PSP). We reviewed the detailed clinical data of 8 FSP patients in a family and analyzed the clinical characteristics of FSP combined with literatures. The FLCN gene of these 8 FSP patients was sequenced by the next-generation sequencing technology (NGS). The results showed that the clinical features of FSP were significantly different from those of PSP: the incidence of pneumothorax in women is significantly higher, and the age of pneumothorax is later, most of them are two generations, which may be related to heredity. And the effect of surgical treatment is the best. Novel nonsense mutation was found in the 8 patients, and the 8 patients had the same mutation, thus demonstrating the diversity of mutation spots along the gene. Therefore, the FLCN gene screening and early surgical intervention is recommended for FSP patients.