Journal Article

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

Marquette, C., Hauss, P. A., Leroy, S., Uzunhan, Y., Faouzi, M., Borie, R., Daccord, C., Lazor, R., Freynet, O., Devouassoux, G., Cordier, J. F., Collonge-Rame, M. A., Poulalhon, N., Reynaud-Gaubert, M., Marchand-Adam, S., Bonniaud, P., Crestani, B., Mornex, J. F., Nadeau, G., Gondouin, A., Montani, D., Khouatra, C., Prévot, G., Cottin, V., Salaun, M., Wallaert, B., Naccache, J. M., Briault, A.

2020

Overview

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 (FEV 1 ), forced vital capacity (FVC), FEV 1 /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.

• Publisher: BioMed Central,Springer Nature B.V,BMC
• Subject: Age / Birt-Hogg-Dube syndrome / Carbon monoxide / Computed tomography / Cysts / Data collection / FLCN protein, human / Gender / Hereditary diseases / Human Genetics / Human health and pathology / Life Sciences / Lung diseases / Medical research / Medicine / Medicine & Public Health / Mutation / Patients / Pharmacology/Toxicology / Pleurodesis / Pneumothorax / Rare diseases / Rare pulmonary diseases / Respiratory function / Respiratory function tests / Software / Standard deviation / Transfer factor / Tumors / Variables