학술논문
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients
Document Type
article
Author
C. Daccord; V. Cottin; G. Prévot; Y. Uzunhan; J. F. Mornex; P. Bonniaud; R. Borie; A. Briault; M. A. Collonge-Rame; B. Crestani; G. Devouassoux; O. Freynet; A. Gondouin; P. A. Hauss; C. Khouatra; S. Leroy; S. Marchand-Adam; C. Marquette; D. Montani; J. M. Naccache; G. Nadeau; N. Poulalhon; M. Reynaud-Gaubert; M. Salaun; B. Wallaert; J. F. Cordier; M. Faouzi; R. Lazor; the OrphaLung network
Source
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Subject
Language
English
ISSN
1750-1172
Abstract
Abstract Background 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. Results 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 (FEV1), forced vital capacity (FVC), FEV1/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