RATIONALE: Birt-Hogg-Dubé syndrome (BHDS) 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 (sex, smoking history, and lung cysts) and continuous parameters (number of cysts, lung cyst volume, and 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 the BHD mutation was associated with the numbers of cysts (p = 0.0002). CONCLUSIONS: This study indicates that patients with BHDS have a significant association between lung cysts and spontaneous pneumothorax.
RATIONALE: Birt-Hogg-Dubé syndrome (BHDS) 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 (sex, smoking history, and lung cysts) and continuous parameters (number of cysts, lung cyst volume, and 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 the BHD mutation was associated with the numbers of cysts (p = 0.0002). CONCLUSIONS: This study indicates that patients with BHDS have a significant association between lung cysts and spontaneous pneumothorax.
Authors: L S Schmidt; M B Warren; M L Nickerson; G Weirich; V Matrosova; J R Toro; M L Turner; P Duray; M Merino; S Hewitt; C P Pavlovich; G Glenn; C R Greenberg; W M Linehan; B Zbar Journal: Am J Hum Genet Date: 2001-08-30 Impact factor: 11.025
Authors: Berton Zbar; W Gregory Alvord; Gladys Glenn; Maria Turner; Christian P Pavlovich; Laura Schmidt; McClellan Walther; Peter Choyke; Gregor Weirich; Stephen M Hewitt; Paul Duray; Fathia Gabril; Cheryl Greenberg; Maria J Merino; Jorge Toro; W Marston Linehan Journal: Cancer Epidemiol Biomarkers Prev Date: 2002-04 Impact factor: 4.254
Authors: Michael L Nickerson; Michelle B Warren; Jorge R Toro; Vera Matrosova; Gladys Glenn; Maria L Turner; Paul Duray; Maria Merino; Peter Choyke; Christian P Pavlovich; Nirmala Sharma; McClellan Walther; David Munroe; Rob Hill; Eamonn Maher; Cheryl Greenberg; Michael I Lerman; W Marston Linehan; Berton Zbar; Laura S Schmidt Journal: Cancer Cell Date: 2002-08 Impact factor: 31.743
Authors: Kazuo Okimoto; Junko Sakurai; Toshiyuki Kobayashi; Hiroaki Mitani; Youko Hirayama; Michael L Nickerson; Michelle B Warren; Berton Zbar; Laura S Schmidt; Okio Hino Journal: Proc Natl Acad Sci U S A Date: 2004-02-09 Impact factor: 11.205
Authors: Frode Lingaas; Kenine E Comstock; Ewen F Kirkness; Anita Sørensen; Tone Aarskaug; Christophe Hitte; Michael L Nickerson; Lars Moe; Laura S Schmidt; Rachael Thomas; Matthew Breen; Francis Galibert; Berton Zbar; Elaine A Ostrander Journal: Hum Mol Genet Date: 2003-10-07 Impact factor: 6.150
Authors: W Marston Linehan; Gennady Bratslavsky; Peter A Pinto; Laura S Schmidt; Len Neckers; Donald P Bottaro; Ramaprasad Srinivasan Journal: Annu Rev Med Date: 2010 Impact factor: 13.739