Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Heterozygote
  • Humans
  • Lung / diagnostic imaging
  • Male
  • Mutation
  • Phenotype
  • Pulmonary Emphysema / complications*
  • Pulmonary Emphysema / diagnostic imaging
  • Pulmonary Emphysema / genetics*
  • Pulmonary Fibrosis / complications*
  • Pulmonary Fibrosis / diagnostic imaging
  • Pulmonary Fibrosis / genetics*
  • Pulmonary Surfactant-Associated Protein C / genetics
  • Pulmonary Surfactants / metabolism
  • Syndrome
  • Tomography, X-Ray Computed

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • Pulmonary Surfactant-Associated Protein C
  • Pulmonary Surfactants
  • SFTPC protein, human

Associated data

  • ClinicalTrials.gov/NCT00783978