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

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_F3BB210D9637
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.
Périodique
Orphanet journal of rare diseases
Auteur⸱e⸱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.
Collaborateur⸱rice⸱s
OrphaLung network
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Statut éditorial
Publié
Date de publication
24/05/2020
Peer-reviewed
Oui
Volume
15
Numéro
1
Pages
120
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
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.
Mots-clé
Birt-Hogg-Dube syndrome, FLCN protein, human, Pleurodesis, Respiratory function tests
Pubmed
Web of science
Open Access
Oui
Création de la notice
05/06/2020 12:40
Dernière modification de la notice
15/01/2021 7:12
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