Usual interstitial pneumonia in an adolescent with ABCA3 mutations

Chest. 2008 Jul;134(1):192-5. doi: 10.1378/chest.07-2652.


Many diverse and frequently idiopathic disorders cause interstitial lung disease (ILD) in children. Although the histologic patterns of ILD in children and adults share similar features, important differences exist in etiology, clinical manifestations, and outcome. Usual interstitial pneumonia (UIP) is the most frequent histologic pattern in adult ILD; however, the characteristic histologic features of UIP have yet to be demonstrated in a child. We report a 15-year-old boy with the UIP pattern of pulmonary fibrosis who had mutations in the adenosine triphosphate-binding-cassette-A3 gene. Discovery of how genetic mutations of proteins involved in surfactant biosynthesis lead to progressive fibrosis will have implications for the understanding of the pathogenesis and clinical manifestations of ILD in both adults and children.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / genetics*
  • Male
  • Mutation / genetics*
  • Pulmonary Surfactant-Associated Protein C / genetics
  • Tomography, X-Ray Computed


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