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

Identifieur interne : 000215 ( Ncbi/Merge ); précédent : 000214; suivant : 000216

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

Auteurs : Michael Williamson [Royaume-Uni] ; Colin Wallis

Source :

RBID : pubmed:24115460

Descripteurs français

English descriptors

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.

DOI: 10.1002/ppul.22811
PubMed: 24115460

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Le document en format XML

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