Usual interstitial pneumonia in an adolescent with ABCA3 mutations

Lisa R. Young, Lawrence M. Nogee, Bruce Barnett, Ralph J. Panos, Thomas V. Colby, Gail H. Deutsch

Research output: Contribution to journalArticlepeer-review

80 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)192-195
Number of pages4
JournalChest
Volume134
Issue number1
DOIs
StatePublished - Jul 2008

Keywords

  • ABCA3
  • Children
  • Interstitial lung disease
  • Surfactant
  • Usual interstitial pneumonia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine

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