患者表现为家族性自发性气胸的伯特-霍格-杜布综合征。

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.

机构信息

Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.

Division of Pulmonary, Critical Care and Sleep Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.

出版信息

Ann Thorac Surg. 2014 Jul;98(1):325-7. doi: 10.1016/j.athoracsur.2013.09.022.

DOI:10.1016/j.athoracsur.2013.09.022

PMID:24996715

Abstract

Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this syndrome; additional evaluation and testing may be warranted.

摘要

Birt-Hogg-Dubé（BHD）综合征是一种最近发现的常染色体显性遗传病，由滤泡素基因的突变引起。我们报告了一例家族性自发性气胸患者，该患者被诊断为 BHD 综合征。有气胸个人和家族史以及计算机断层扫描（CT）显示多发性肺囊肿的患者应引起胸外科医生对该综合征的警惕；可能需要进一步评估和检查。