RT Journal Article
SR Electronic
T1 Combined pulmonary fibrosis and emphysema syndrome associated with <em>ABCA3</em> mutations
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP erj01452-2013
DO 10.1183/09031936.00145213
A1 Ralph Epaud
A1 Céline Delestrain
A1 Malek Louha
A1 Stéphanie Simon
A1 Pascale Fanen
A1 Abdellatif Tazi
YR 2013
UL http://erj.ersjournals.com/content/early/2013/10/16/09031936.00145213.abstract
AB 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&gt;T. This case suggests a potential contribution of surfactant metabolism dysfunction in the pathogenesis of this disorder.