Birt-Hogg-Dubé Syndrome: A Large Single Family Cohort

Kate Skolnik; Willis H. Tsai; Kimberly Dornan; Renée Perrier; Paul W. Burrowes; Warren J. Davidson

Disclosures

Respiratory Research. 2016;17(22) 

In This Article

Conclusion

We describe the largest single family cohort of patients with BHD syndrome reported to date. All subjects had cystic lung disease with a significant number experiencing spontaneous pneumothorax. Cyst size and lower lung zone predominant disease were associated with pneumothorax occurrence. Lung function was generally preserved and not affected by a high cyst burden. Given that BHD-associated pneumothoraces may be severe and recurrent, clinicians may consider early intervention and thoracic surgery referral.

Comments

3090D553-9492-4563-8681-AD288FA52ACE

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