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. 2007 May 15;175(10):1044-53.
doi: 10.1164/rccm.200610-1483OC. Epub 2007 Feb 22.

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

Jorge R Toro  1 , Stephen E Pautler, Laveta Stewart, Gladys M Glenn, Michael Weinreich, Ousmane Toure, Ming-Hui Wei, Laura S Schmidt, Lewis Davis, Berton Zbar, Peter Choyke, Seth M Steinberg, Dao M Nguyen, W Marston Linehan
Affiliations

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

Jorge R Toro et al. Am J Respir Crit Care Med. .

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.

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Figures

<b>Figure 1.</b>
Figure 1.
Pulmonary manifestations of patients with Birt-Hogg-Dubé syndrome on conventional helical (5 mm) chest computed tomography imaging. (1) Loculated pnemothorax on the right lung as well as multiple bilateral smaller cysts in the lung bases. (2) Cluster of small cysts in the right lung base. (3) Bilateral basilar lung cysts. (4) Bilateral, multiple, peripheral lung cysts more pronounced on the right side. (5) Loculated pneumothorax in right upper lobe. (6) Pneumothorax on the left with collapse of the left upper lobe and multiple right-sided cysts.
<b>Figure 2.</b>
Figure 2.
Kaplan-Meier curve showing the association between age and the first spontaneous pneumothorax among patients with Birt-Hogg-Dubé syndrome.
See this image and copyright information in PMC

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References

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