title: Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
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.
authors.affiliation: Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, London, WC1N 3JH, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Williamson
authors.forename: Colin
authors.initials: C
authors.lastname: Wallis
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000172:deficiency*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006886:Hydroxychloroquine / Q000627:therapeutic use*; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008137:Longitudinal Studies; D017563:Lung Diseases, Interstitial / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D007166:Immunosuppressive Agents; D006886:Hydroxychloroquine
keywords: ABCA3; hydroxychloroquine; interstitial lung disease; surfactant protein deficiency