Ten‐year follow up of hydroxychloroquine treatment for ABCA3 deficiency
Identifieur interne : 000095 ( Istex/Corpus ); précédent : 000094; suivant : 000096Ten‐year follow up of hydroxychloroquine treatment for ABCA3 deficiency
Auteurs : Michael Williamson ; Colin WallisSource :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-03.
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. Pediatr Pulmonol. 2014; 49:299–301. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.22811
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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. Pediatr Pulmonol. 2014; 49:299–301. © 2013 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Michael Williamson MRCPCH</name><affiliations><json:string>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, WC1N 3JH, London, UK</json:string></affiliations></json:item><json:item><name>Colin Wallis FRCPCH</name><affiliations><json:string>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, WC1N 3JH, London, UK</json:string><json:string>E-mail: colin.wallis@gosh.nhs.uk</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>interstitial lung disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ABCA3</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>surfactant protein deficiency</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hydroxychloroquine</value></json:item></subject><articleId><json:string>PPUL22811</json:string></articleId><arkIstex>ark:/67375/WNG-JDZBJZWR-6</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><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. 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E‐mail: <email>colin.wallis@gosh.nhs.uk</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:PPUL.PPUL22811.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Ten‐year follow up of hydroxychloroquine treatment for ABCA3 deficiency</title><title type="short">Hydroxychloroquine Treatment for ABCA3 Deficiency</title><title type="shortAuthors">Williamson and Wallis</title></titleGroup><creators><creator xml:id="ppul22811-cr-0001" creatorRole="author" affiliationRef="#ppul22811-aff-0001"><personName><givenNames>Michael</givenNames> <familyName>Williamson</familyName><degrees>MRCPCH</degrees></personName></creator><creator xml:id="ppul22811-cr-0002" creatorRole="author" affiliationRef="#ppul22811-aff-0001" corresponding="yes"><personName><givenNames>Colin</givenNames> <familyName>Wallis</familyName><degrees>FRCPCH</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="ppul22811-aff-0001" countryCode="GB"><orgDiv>Great Ormond Street Hospital Respiratory Department</orgDiv><orgName>Great Ormond Street Hospital</orgName><address><city>London</city><postCode>WC1N 3JH</postCode><country>UK</country></address></affiliation></affiliationGroup><keywordGroup type="author" xml:lang="en"><keyword xml:id="ppul22811-kwd-0001">interstitial lung disease</keyword><keyword xml:id="ppul22811-kwd-0002">ABCA3</keyword><keyword xml:id="ppul22811-kwd-0003">surfactant protein deficiency</keyword><keyword xml:id="ppul22811-kwd-0004">hydroxychloroquine</keyword></keywordGroup><fundingInfo><fundingAgency>none reported</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Summary</title><section xml:id="ppul22811-sec-0001"><p>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. <b>Pediatr Pulmonol. 2014; 49:299–301.</b> © 2013 Wiley Periodicals, Inc.</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="ppul22811-note-0001" numbered="no">Conflict of interest: None.</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Ten‐year follow up of hydroxychloroquine treatment for ABCA3 deficiency</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Hydroxychloroquine Treatment for ABCA3 Deficiency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Ten‐year follow up of hydroxychloroquine treatment for ABCA3 deficiency</title></titleInfo><name type="personal"><namePart type="given">Michael</namePart><namePart type="family">Williamson</namePart><namePart type="termsOfAddress">MRCPCH</namePart><affiliation>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, WC1N 3JH, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Colin</namePart><namePart type="family">Wallis</namePart><namePart type="termsOfAddress">FRCPCH</namePart><affiliation>Great Ormond Street Hospital Respiratory Department, Great Ormond Street Hospital, WC1N 3JH, London, UK</affiliation><affiliation>E-mail: colin.wallis@gosh.nhs.uk</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><dateIssued encoding="w3cdtf">2014-03</dateIssued><dateCreated encoding="w3cdtf">2013-09-25</dateCreated><dateCaptured encoding="w3cdtf">2012-06-29</dateCaptured><dateValid encoding="w3cdtf">2013-03-13</dateValid><copyrightDate encoding="w3cdtf">2014</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract 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. Pediatr Pulmonol. 2014; 49:299–301. © 2013 Wiley Periodicals, Inc.</abstract><note type="funding">none reported</note><subject lang="en"><genre>keywords</genre><topic>interstitial lung disease</topic><topic>ABCA3</topic><topic>surfactant protein deficiency</topic><topic>hydroxychloroquine</topic></subject><relatedItem type="host"><titleInfo><title>Pediatric Pulmonology</title></titleInfo><titleInfo type="abbreviated"><title>Pediatr Pulmonol.</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Case Report</topic><topic>Case Reports</topic></subject><identifier type="ISSN">8755-6863</identifier><identifier type="eISSN">1099-0496</identifier><identifier type="DOI">10.1002/(ISSN)1099-0496</identifier><identifier type="PublisherID">PPUL</identifier><part><date>2014</date><detail type="volume"><caption>vol.</caption><number>49</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>299</start><end>301</end><total>3</total></extent></part></relatedItem><relatedItem type="references" displayLabel="ppul22811-cit-0001"><titleInfo><title>ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells</title></titleInfo><name type="personal"><namePart type="given">G</namePart><namePart type="family">Yamanoa</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">H</namePart><namePart type="family">Funahashib</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O</namePart><namePart type="family">Kawanamic</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">LX</namePart><namePart type="family">Zhaoa</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N</namePart><namePart type="family">Bana</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y</namePart><namePart type="family">Uchidad</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T</namePart><namePart type="family">Morohoshie</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J</namePart><namePart type="family">Ogawaf</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S</namePart><namePart type="family">Shiodab</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N</namePart><namePart type="family">Inagaki</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Yamanoa G, Funahashib H, Kawanamic O, Zhaoa LX, Bana N, Uchidad Y, Morohoshie T, Ogawaf J, Shiodab S, Inagaki N. 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