Combined pulmonary fibrosis and emphysema syndrome associated withABCA3mutations

We report a case of extensive upper-lobe emphysema and lower-lobe pulmonary fibrosis consistent with combined pulmonary fibrosis and emphysema (CPFE) syndrome in a non-smoker adult patient. Sequence analysis of surfactant protein C gene (SFTPC, MIM 178620) and ATP-binding cassette subfamily A member 3 gene (ABCA3, MIM 601615) identified no mutation in SFTPC gene but compound heterozygosity in ABCA3 gene with c.3081_3092delinsCG, a new mutation, and the common mutation c.875A>T. This case suggests a potential contribution of surfactant metabolism dysfunction in the pathogenesis of this disorder.. Published on October 17, 2013 as doi: 10.1183/09031936.00145213ERJ Express Copyright 2013 by the European Respiratory Society. To the Editor: Here, we present the first report of combined pulmonary fibrosis and emphysema (CPFE) in adult patient being compound heterozygote for mutations of the ATP-binding cassette subfamily A member 3 gene (ABCA3, MIM 601615). A 41-year-old non-smoker man, presented with dyspnea on mild exertion. The patient