ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl

Chiharu Ota, Masato Kimura, Shigeo Kure

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with surfactant homeostasis. Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease. We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene. This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood. Treatment with prostacyclin analogue, warfarin, and inhaled oxygen was effective to improve patient's hemodynamic condition as well as pulmonary fibrosis and emphysema.

Original languageEnglish
Pages (from-to)E21-E23
JournalPediatric Pulmonology
Volume51
Issue number6
DOIs
Publication statusPublished - 2016 Jun 1

Keywords

  • ABCA3
  • pulmonary fibrosis and emphysema
  • pulmonary hypertension
  • surfactant biology and pathophysiology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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