Xing Huajie, Liu Yanguo, Jiang Guanchao, Li Xiao, Hou Yanyan, Yang Fan, Wang Jun
Department of Thoracic Surgery, Peking University People's Hospital, Beijing 100044, China.
J Thorac Dis. 2017 Jul;9(7):1967-1972. doi: 10.21037/jtd.2017.06.69.
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.
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.
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.
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.
家族性自发性气胸（FSP）是一种遗传性疾病，Birt-Hogg-Dubé（BHD）综合征是其主要病因。BHD综合征是一种常染色体显性疾病，其特征为肺囊肿、自发性气胸、肾癌和皮肤纤维毛囊瘤。它由该基因的种系突变引起。迄今为止，已报道了多种突变；然而，BHD综合征相关FSP的独特特征仍不清楚。
我们回顾了一个出现FSP的中国大家庭的家族史。对该基因进行了基因检测，并讨论了BHD综合征相关FSP的特殊临床特征。
这个家族包括5代76名成员。其中6人曾经历气胸发作，35名成员接受了该基因的基因分析，除一名气胸患者外。在这35名成员中，17人有该基因突变。所有5名气胸患者都有该突变。突变成员中的气胸发生率为29.4%（5/17）。BHD综合征相关气胸的临床特征与原发性自发性气胸不同，原发性自发性气胸通常影响身材高大、消瘦的年轻男性，BHD综合征相关气胸在观察、针吸或胸腔闭式引流后的复发率高于原发性自发性气胸，且高于胸腔镜下肺大疱切除术和机械性胸膜固定术后的复发率。
我们报告了来自中国的最大的一个出现FSP的单一家族。BHD综合征相关气胸的临床和遗传特征与原发性自发性气胸不同。
