Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients
the OrphaLung network, Cécile Daccord, Vincent Cottin, Grégoire Prévôt, Y. Uzunhan, Jean‐François Mornex, Philippe Bonniaud, Raphaël Borie, Amandine Briault, Marie‐Agnès Collonge‐Rame, Bruno Crestani, Gilles Devouassoux, Olivia Freynet, Anne Gondouin, Pierre-Alexandre Hauss, C. Khouatra, Sylvie Leroy, S. Marchand‐Adam, Charles‐Hugo Marquette, David Montani, Jean‐Marc Naccache, Gilbert Nadeau, Nicolas Poulalhon, Martine Reynaud‐Gaubert, Mathieu Salaün, B. Wallaert, J.-F. Cordier, Mohamed Faouzi, Romain Lazor
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: /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. CONCLUSIONS: 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.