Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

Details

Serval ID
serval:BIB_F3BB210D9637
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.
Journal
Orphanet journal of rare diseases
Author(s)
Daccord C., Cottin V., Prévot G., Uzunhan Y., Mornex J.F., Bonniaud P., Borie R., Briault A., Collonge-Rame M.A., Crestani B., Devouassoux G., Freynet O., Gondouin A., Hauss P.A., Khouatra C., Leroy S., Marchand-Adam S., Marquette C., Montani D., Naccache J.M., Nadeau G., Poulalhon N., Reynaud-Gaubert M., Salaun M., Wallaert B., Cordier J.F., Faouzi M., Lazor R.
Working group(s)
OrphaLung network
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
24/05/2020
Peer-reviewed
Oui
Volume
15
Number
1
Pages
120
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD.
Ninety-five percent of BHD patients had multiple pulmonary cysts on computed tomography and 59% had experienced at least one pneumothorax. Mean values of forced expiratory volume in 1 second (FEV <sub>1</sub> ), forced vital capacity (FVC), FEV <sub>1</sub> /FVC ratio, and total lung capacity were normal at baseline. Mean (standard deviation) residual volume (RV) was moderately increased to 116 (36) %pred at baseline, and RV was elevated > 120%pred in 41% of cases. Mean (standard deviation) carbon monoxide transfer factor (DLco) was moderately decreased to 85 (18) %pred at baseline, and DLco was decreased < 80%pred in 33% of cases. When adjusted for age, gender, smoking and history of pleurodesis, lung function parameters did not significantly decline over a follow-up period of 6 years.
Cystic lung disease in BHD does not affect respiratory function at baseline except for slightly increased RV and reduced DLco. No significant deterioration of lung function occurs in BHD over a follow-up period of 6 years.
Keywords
Birt-Hogg-Dube syndrome, FLCN protein, human, Pleurodesis, Respiratory function tests
Pubmed
Web of science
Open Access
Yes
Create date
05/06/2020 13:40
Last modification date
11/07/2020 6:18
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