Birt-Hogg-Dube syndrome

Where can I learn about the management of Birt Hogg Dube syndrome?

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the diagnosis and management of patients with specific inherited conditions. Click on the link to view the article on Birt Hogg Dube syndrome.

Last updated on 05-01-20

Where can I obtain information regarding the protocol for monitoring patients with Birt Hogg Dube syndrome?

While there is no consensus on clinical surveillance for patients with Birt Hogg Dube syndrome, GeneReviews provides provisional recommendations which may be utilized until a consensus conference is conducted. To access this information, click here and scroll down to the 'Surveillance' section.

Last updated on 05-01-20

How might lung cysts associated with Birt-Hogg-Dube syndrome be treated?

At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality. The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax).

If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan. Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions. It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking.

Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).

Last updated on 05-01-20

(General Scientific Conferences)

BHD Foundation

BHD Foundation provides information on previous and upcoming conferences related to this condition.

Last updated on 04-27-20

Name: Kidney Cancer Association 1234 Sherman Avenue Suite 203
Evanston, IL, 60202-1375, United States
Phone: 312-436-1455 Toll Free: 1-800-850-9132 Fax : +1-503-215-7921 (Nurse Hotline) Email: Url:
Name: BHD Foundation United Kingdom Phone: +44(0)20 7193 8921 Email: Url:
Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome American Journal of Respiratory and Critical Care Medicine. 2007; 175(10). 1044-1053. Reference Link Menko FH, van Steensel, MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, O Hansen TV, Solly J, Maher, ER. Birt-Hogg-Dubé syndrome: diagnosis and management The Lancet Oncology. 2009; 10(12). 1199-1206. Reference Link Toro JR. Birt-Hogg-Dubé Syndrome GeneReviews. 08/07/2014; Reference Link

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