Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency

Pediatr Pulmonol. 2014 Mar;49(3):299-301. doi: 10.1002/ppul.22811. Epub 2013 Oct 1.


We present a child with interstitial lung disease (ILD) who was diagnosed with desquamative interstitial pneumonitis following CT thorax and open lung biopsy aged 2 years. Subsequently, surfactant protein gene analysis revealed mutations in the ABCA3 gene. This case of ABCA3 deficient ILD describes a stable clinical course over 10 years and highlights the potential benefit of hydroxychloroquine for this condition.

Keywords: ABCA3; hydroxychloroquine; interstitial lung disease; surfactant protein deficiency.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / deficiency*
  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Hydroxychloroquine / therapeutic use*
  • Immunosuppressive Agents / therapeutic use*
  • Longitudinal Studies
  • Lung Diseases, Interstitial / drug therapy*
  • Treatment Outcome


  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • Immunosuppressive Agents
  • Hydroxychloroquine

Supplementary concepts

  • Surfactant Dysfunction