TY - JOUR T1 - Combined pulmonary fibrosis and emphysema syndrome associated with <em>ABCA3</em> mutations JF - European Respiratory Journal JO - Eur Respir J SP - 638 LP - 641 DO - 10.1183/09031936.00145213 VL - 43 IS - 2 AU - Ralph Epaud AU - Céline Delestrain AU - Malek Louha AU - Stéphanie Simon AU - Pascale Fanen AU - Abdellatif Tazi Y1 - 2014/02/01 UR - http://erj.ersjournals.com/content/43/2/638.abstract N2 - To the Editor:Herein, we present the first report of combined pulmonary fibrosis and emphysema (CPFE) in an adult patient who was compound heterozygous for mutations of the ATP-binding cassette subfamily A member 3 gene (ABCA3, MIM 601615).A 41-year-old nonsmoking male presented with dyspnoea on mild exertion. The patient’s medical history indicated neonatal respiratory distress, gastro-oesophageal reflux and pneumonia 8 years previously that resolved with antibiotics. His physical examination revealed a mild pectus excavatum, finger clubbing and bilateral basal crackles. High-resolution computed tomography (HRCT) of the chest showed voluminous emphysema in the upper zones of the lungs associated with honeycomb fibrosis and ground-glass opacity in lower lobes, predominating in left lung (fig. 1). The bronchoalveolar lavage differential cell count was 67% macrophages, 22% neutrophils and 8% lymphocytes. Pulmonary function tests showed: total lung capacity of 75%, vital capacity (VC) of 50%, residual volume of 134%; forced expiratory volume in 1 s (FEV1) of 49%, diffusing capacity of the lung for carbon monoxide of 38% predicted, FEV1/VC of 74%, and arterial oxygen tension at room air was 96 mmHg. During a 6-min walk test the peripheral oxygen saturation decreased from 96% at rest to 90% after 630 m (80% of predicted value). A lung biopsy was not performed. … ER -