Abstract
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.
- ERS