Published ahead of print on February 22, 2007, doi:10.1164/rccm.200610-1483OC Am. J. Respir. Crit. Care Med., Volume 175, Number 10, May 2007, 1044-1053 A more recent version of this article appeared on May 15, 2007
Submitted on October 16, 2006 Lung Cysts, Spontaneous Pneumothrorax and Genetic Associations in 89 Families with Birt-Hogg-DubeJorge R Toro1*,1 Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA, 2 Urology Oncology Branch, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA, 3 Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA; Basic Research Program, SIAC- Frederick, Inc., NCI-Frederick, National Cancer Institute, Frederick, MD, USA, 4 Urology Oncology Branch, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA; Basic Research Program, SIAC- Frederick, Inc., NCI-Frederick, National Cancer Institute, Frederick, MD, USA, 5 Department of Diagnostic Radiology, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA, 6 Biostatistic and Data Management Section, National Cancer Institute, Center for Cancer Research, Rockville, MD, USA, 7 Surgery Branch, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA * To whom correspondence should be addressed. E-mail: toroj{at}mail.nih.gov.
Rationale: Birt-Hogg-Dube syndrome (BHDS)(OMIM #135150) is an autosomal dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts and spontaneous pneumothorax. Objectives: We evaluated 198 patients from 89 families with BHDS to characterize the risk factors for pneumothorax, and genotype-pulmonary associations. Methods: Helical computed tomography scans of the chest were used to screen for pulmonary abnormalities. BHD mutation data were used for genotype-pulmonary associations. We examined the relationship of pneumothorax with categorical parameters (gender, smoking history, and lung cysts) and continuous parameters (number of cysts, lung cyst volume, largest cyst diameter and volume). Logistic regression analyses were used to identify the risk factors associated with pneumothorax. Measurements and Main Results: Twenty-four percent (48/198) of patients with BHDS had a history of pneumothorax. The presence of lung cysts was significantly associated with pneumothorax (P=0.006). Total lung cyst volume, largest cyst diameter and volume, and every parameter related to the number of lung cysts were significantly associated (P<0.0001) with pneumothorax. A logistic regression analysis showed that only the total number of cysts in the right parenchymal lower lobe and the total number of cysts located on the pleural surface in the right middle lobe were needed to classify a patient as to whether or not he or she was likely to have a pneumothorax. Exon location of BHD mutation was associated with the numbers of cysts (P=0.0002). Conclusion: This study indicates that patients with BHDS have a significant association between lung cysts and spontaneous pneumothorax. Key words: Birt-Hogg-Dube syndrome, genodermatosis, familial spontaneous pneumothorax, lung cysts, fibrofolliculomas, renal neoplasms, BHD gene
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