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. 2020 May 24;15(1):120.
doi: 10.1186/s13023-020-01402-y.

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

C Daccord  1 , V Cottin  2 , G Prévot  3 , Y Uzunhan  4 , J F Mornex  2 , P Bonniaud  5 , R Borie  6 , A Briault  7 , M A Collonge-Rame  8 , B Crestani  6 , G Devouassoux  9 , O Freynet  4 , A Gondouin  10 , P A Hauss  11 , C Khouatra  2 , S Leroy  12 , S Marchand-Adam  13 , C Marquette  12 , D Montani  14 , J M Naccache  15 , G Nadeau  16 , N Poulalhon  17 , M Reynaud-Gaubert  18 , M Salaun  19 , B Wallaert  20 , J F Cordier  2 , M Faouzi  21 , R Lazor  22 ; OrphaLung network
Affiliations

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

C Daccord et al. Orphanet J Rare Dis. .

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 < 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.

Keywords: Birt-Hogg-Dube syndrome; FLCN protein, human; Pleurodesis; Respiratory function tests.

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Conflict of interest statement

The authors declare that they have no competing interests related to this work.

Figures

Fig. 1
Fig. 1
Evolution of lung function parameters during follow-up in BHD for a FEV1, b FVC, c FEV1/FVC, d DLco. Left: raw data, right: linear prediction fixed proportion model
See this image and copyright information in PMC

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