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

BACKGROUND

Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the gene. Thus far a variety of mutations have been reported; however, the unique characteristics of BHD syndrome-related FSP are still unclear.

METHOD

We reviewed the family history of a large Chinese family that presented with FSP. Genetic testing of the gene was performed and the special clinical characteristics of BHD syndrome-related FSP were discussed.

RESULTS

This family comprised 5 generations and 76 members. Six of these had experienced pneumothorax episodes and 35 members had undergone genetic analysis of the gene, except for one member who had pneumothorax. Among the 35 members, 17 had the mutation in the 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.