Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

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 nonsmoker 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: 10.1183/09031936.00145213 ERJ Express Copyright 2013 by the European Respiratory Society.