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

Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.

Author information

1
Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, London, WC1N 3JH, UK.

Abstract

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

PMID:
24115460
DOI:
10.1002/ppul.22811
[Indexed for MEDLINE]

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