ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids

Pediatr Pulmonol. 2016 Jan;51(1):E1-3. doi: 10.1002/ppul.23260. Epub 2015 Jul 29.


We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration.

Keywords: VLBW; glucocorticosteroids; interstitial lung disease; prematurity; surfactant metabolism dysfunction.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Dexamethasone / therapeutic use*
  • Female
  • Gestational Age
  • Glucocorticoids / therapeutic use*
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature
  • Lung Diseases, Interstitial / drug therapy
  • Lung Diseases, Interstitial / genetics*
  • Methylprednisolone / therapeutic use*
  • Mutation, Missense*
  • Treatment Outcome


  • ATP-Binding Cassette Transporters
  • Glucocorticoids
  • Dexamethasone
  • Methylprednisolone