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Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
Am J Respir Crit Care Med. 2007 May 15; 175(10):1044-53.AJ

Abstract

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+Show Affiliations

Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20892-7231, USA. torojo@exchange.nih.govNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

17322109

Citation

Toro, Jorge R., et al. "Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families With Birt-Hogg-Dubé Syndrome." American Journal of Respiratory and Critical Care Medicine, vol. 175, no. 10, 2007, pp. 1044-53.
Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med. 2007;175(10):1044-53.
Toro, J. R., Pautler, S. E., Stewart, L., Glenn, G. M., Weinreich, M., Toure, O., Wei, M. H., Schmidt, L. S., Davis, L., Zbar, B., Choyke, P., Steinberg, S. M., Nguyen, D. M., & Linehan, W. M. (2007). Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. American Journal of Respiratory and Critical Care Medicine, 175(10), 1044-53.
Toro JR, et al. Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families With Birt-Hogg-Dubé Syndrome. Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. PubMed PMID: 17322109.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. AU - Toro,Jorge R, AU - Pautler,Stephen E, AU - Stewart,Laveta, AU - Glenn,Gladys M, AU - Weinreich,Michael, AU - Toure,Ousmane, AU - Wei,Ming-Hui, AU - Schmidt,Laura S, AU - Davis,Lewis, AU - Zbar,Berton, AU - Choyke,Peter, AU - Steinberg,Seth M, AU - Nguyen,Dao M, AU - Linehan,W Marston, Y1 - 2007/02/22/ PY - 2007/2/27/pubmed PY - 2007/7/19/medline PY - 2007/2/27/entrez SP - 1044 EP - 53 JF - American journal of respiratory and critical care medicine JO - Am J Respir Crit Care Med VL - 175 IS - 10 N2 - 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. SN - 1073-449X UR - https://www.unboundmedicine.com/medline/citation/17322109/Lung_cysts_spontaneous_pneumothorax_and_genetic_associations_in_89_families_with_Birt_Hogg_Dubé_syndrome_ L2 - https://www.atsjournals.org/doi/10.1164/rccm.200610-1483OC?url_ver=Z39.88-2003&amp;rfr_id=ori:rid:crossref.org&amp;rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -