Literature DB >> 24115460

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

Michael Williamson1, Colin Wallis.   

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.
© 2013 Wiley Periodicals, Inc.

Entities:  

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

Mesh：

Substances：

Year:  2013        PMID： 24115460     DOI： 10.1002/ppul.22811

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


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