Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax

Abstract

BACKGROUND: gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear. METHOD: gene was performed and the special clinical characteristics of BHD syndrome-related FSP were discussed. RESULTS: gene. All five members with pneumothorax had the mutation. Frequency of pneumothorax in the mutation members was 29.4% (5/17). Clinical characteristics of the BHD syndrome-related pneumothorax differed from those of primary spontaneous pneumothorax, which typically affects tall, thin young men, and the recurrence rate of BHD syndrome-related pneumothorax after observation, needle aspiration or tube drainage was higher than that of primary spontaneous pneumothorax, and higher than that observed after VATS bullectomy and mechanical pleurodesis. CONCLUSIONS: We reported the largest single family that presented with FSP from China. The clinical and genetic characteristics of the BHD syndrome-related pneumothorax differ from those of primary spontaneous pneumothorax.