Abstract
BackgroundBirt-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.ResultsNinety-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.ConclusionsCystic 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.
Highlights
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder first described in 1977 [1], and caused by mutations in the tumour suppressor gene FLCN coding for folliculin [2]
Pulmonary cysts were found on high-resolution computed tomography (HRCT) in 95% of cases
The main findings are that lung function tests and Arterial oxygen partial pressure (PaO2) were normal in most patients at baseline except for increased residual volume (RV) and reduced Carbon monoxide transfer factor (DLco) in a minority, and that no deterioration occurred over a follow-up period of 6 years
Summary
Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder first described in 1977 [1], and caused by mutations in the tumour suppressor gene FLCN coding for folliculin [2]. Its clinical expression includes cutaneous fibrofolliculomas, renal tumours of various histological types, and multiple pulmonary cysts. More than 80% of patients with BHD present with multiple bilateral pulmonary cysts on high-resolution computed tomography (HRCT) [3,4,5]. The presence of cysts predisposes to spontaneous pneumothorax, with an incidence 50-fold higher than in the general population [3] and a high recurrence rate. 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. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD
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