• Pediatric pulmonology · Mar 2014

    Case Reports

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

    • Michael Williamson and Colin Wallis.
    • Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, London, WC1N 3JH, UK.
    • Pediatr. Pulmonol. 2014 Mar 1;49(3):299-301.

    AbstractWe 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.© 2013 Wiley Periodicals, Inc.

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