Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Identifieur interne : 000215 ( Ncbi/Checkpoint ); précédent : 000214; suivant : 000216Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Auteurs : Michael Williamson [Royaume-Uni] ; Colin WallisSource :
- Pediatric pulmonology [ 1099-0496 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- déficit : Transporteurs ABC.
- traitement médicamenteux : Pneumopathies interstitielles.
- usage thérapeutique : Hydroxychloroquine, Immunosuppresseurs.
- Adolescent, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Résultat thérapeutique, Études longitudinales.
English descriptors
- KwdEn :
- MESH :
- chemical , deficiency : ATP-Binding Cassette Transporters.
- chemical , therapeutic use : Hydroxychloroquine, Immunosuppressive Agents.
- drug therapy : Lung Diseases, Interstitial.
- Adolescent, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Treatment Outcome.
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
Affiliations:
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wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, London, WC1N 3JH, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, London, WC1N 3JH</wicri:regionArea><wicri:noRegion>WC1N 3JH</wicri:noRegion></affiliation></author><author><name sortKey="Wallis, Colin" sort="Wallis, Colin" uniqKey="Wallis C" first="Colin" last="Wallis">Colin Wallis</name></author></analytic><series><title level="j">Pediatric pulmonology</title><idno type="eISSN">1099-0496</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (deficiency)</term><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Hydroxychloroquine (therapeutic use)</term><term>Immunosuppressive Agents (therapeutic use)</term><term>Longitudinal Studies</term><term>Lung Diseases, Interstitial (drug therapy)</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Immunosuppresseurs (usage thérapeutique)</term><term>Pneumopathies interstitielles (traitement médicamenteux)</term><term>Résultat thérapeutique</term><term>Transporteurs ABC (déficit)</term><term>Études longitudinales</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>ATP-Binding Cassette Transporters</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Hydroxychloroquine</term><term>Immunosuppressive Agents</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Transporteurs ABC</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Hydroxychloroquine</term><term>Immunosuppresseurs</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Résultat thérapeutique</term><term>Études longitudinales</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Wallis, Colin" sort="Wallis, Colin" uniqKey="Wallis C" first="Colin" last="Wallis">Colin Wallis</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Williamson, Michael" sort="Williamson, Michael" uniqKey="Williamson M" first="Michael" last="Williamson">Michael Williamson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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