Birt-Hogg-Dube syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

ABSTRACT:

Background

Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis.

Methods

Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible pat

SUBMITTER: Sriram JD 

PROVIDER: S-EPMC9414409 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature