Variable clinical outcome of ABCA3 deficiency in two siblings

Pediatr Pulmonol. 2013 Oct;48(10):1035-8. doi: 10.1002/ppul.22698. Epub 2013 Jul 2.

Abstract

This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy.

Keywords: ABCA3; pediatric; respiratory.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / deficiency*
  • ATP-Binding Cassette Transporters / genetics
  • Child, Preschool
  • Fatal Outcome
  • Humans
  • Lung Diseases, Interstitial / diagnosis*
  • Lung Diseases, Interstitial / drug therapy
  • Lung Diseases, Interstitial / genetics
  • Male
  • Prognosis
  • Pulmonary Alveolar Proteinosis / diagnosis*
  • Pulmonary Alveolar Proteinosis / drug therapy
  • Pulmonary Alveolar Proteinosis / genetics
  • Respiratory Function Tests
  • Siblings
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Surfactant Metabolism Dysfunction, Pulmonary, 3