Variable clinical outcome of ABCA3 deficiency in two siblings
Identifieur interne : 000B14 ( Istex/Corpus ); précédent : 000B13; suivant : 000B15Variable clinical outcome of ABCA3 deficiency in two siblings
Auteurs : Surendran Thavagnanam ; Ernest Cutz ; David Manson ; Lawrence M. Nogee ; Sharon D. DellSource :
- Pediatric Pulmonology [ 8755-6863 ] ; 2013-10.
English descriptors
- Teeft :
- Abca3, Abca3 mutations, Abca3 sequence variants, Abnormal lamellar bodies, Aec2, Alveolar type, Biol, Biol chem, Case report, Cassette, Chem, Clinical outcome, Clinical outcomes, Clinical symptoms, Electron microscopy, Eudowood foundation, Exome variant server, Fatal surfactant, Genetic testing, Ground glass opacities, Lamellar, Lamellar body, Lipid transporter, Lung biopsy, Lung disease, Lung function, Macrolide antibiotics, Mutation, National institutes, Nogee, Normal lamellar bodies, Pediatr pulmonol, Pediatric, Pediatric pulmonology, Percentile, Protein substitution, Pulmonary function, Pulmonary surfactant, Pulmonology, Respir crit care, Respiratory distress, Respiratory medicine, Respiratory symptoms, Retrospective review, Sequence variants, Sibling, Sick children, Surfactant, Transporter, Variant, Wiley periodicals.
Abstract
This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9‐year‐old child whose sibling died of the same disease in infancy. Pediatr Pulmonol. 2013; 48:1035–1038. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.22698
Links to Exploration step
ISTEX:494433F25CEFEC234EE3087604DF54E57BB8670ELe document en format XML
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Dell, MD,</line><line>The Hospital for Sick Children, Pediatrics, Division of Respiratory Medicine, 555 University Avenue, Toronto, Ontario, Canada M5G1X8.</line><line>E‐mail: <email>sharon.dell@sickkids.ca</email></line></lineatedText></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:PPUL.PPUL22698.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Variable clinical outcome of <fc>ABCA</fc>3 deficiency in two siblings</title><title type="short">Variable Outcome of <fc>ABCA</fc>3 Deficiency</title><title type="shortAuthors">Thavagnanam et al.</title></titleGroup><creators><creator xml:id="ppul22698-cr-0001" creatorRole="author" affiliationRef="#ppul22698-aff-0001 #ppul22698-aff-0002" currentRef="#ppul22698-aff-0006"><personName><givenNames>Surendran</givenNames> <familyName>Thavagnanam</familyName><degrees>MBBS</degrees></personName></creator><creator xml:id="ppul22698-cr-0002" creatorRole="author" 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href="urn-x:wiley:87556863:media:ppul22698:ppul22698-sm-0001-SupFig-S1"></mediaResource><caption>Supplementary Figure S1.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:87556863:media:ppul22698:ppul22698-sm-0002-SupFig-S2"></mediaResource><caption>Supplementary Figure S2.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:87556863:media:ppul22698:ppul22698-sm-0003-SupFig-S3"></mediaResource><caption>Supplementary Figure S3.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:87556863:media:ppul22698:ppul22698-sm-0004-SupFig-S4"></mediaResource><caption>Supplementary Figure S4.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:87556863:media:ppul22698:ppul22698-sm-0005-SupFig-S5"></mediaResource><caption>Supplementary Figure S5.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="ppul22698-sec-0001"><p>This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9‐year‐old child whose sibling died of the same disease in infancy. <b>Pediatr Pulmonol. 2013; 48:1035–1038.</b> © 2013 Wiley Periodicals, Inc.</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="ppul22698-note-0001" numbered="no">Conflict of interest: None.</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Variable clinical outcome of ABCA3 deficiency in two siblings</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Variable Outcome of ABCA3 Deficiency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Variable clinical outcome of ABCA3 deficiency in two siblings</title></titleInfo><name type="personal"><namePart type="given">Surendran</namePart><namePart type="family">Thavagnanam</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>Division of Respiratory Medicine, The Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada</affiliation><affiliation>University of Toronto, Toronto, Canada</affiliation><affiliation>Current Address: Department of Pediatric Respiratory Medicine, University Malaya Medical Centre, Kuala Lumpur, Malaysia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ernest</namePart><namePart type="family">Cutz</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Toronto, Toronto, Canada</affiliation><affiliation>Hospital for Sick Children, Pathology, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Manson</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Toronto, Toronto, Canada</affiliation><affiliation>Hospital for Sick Children, Diagnostic Imaging, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lawrence M.</namePart><namePart type="family">Nogee</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>University of Toronto, Toronto, Canada</affiliation><affiliation>Eudowood Neonatal Pulmonary Division, Johns Hopkins Medical Institutions, Maryland, Baltimore</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sharon D.</namePart><namePart type="family">Dell</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Respiratory Medicine, The Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada</affiliation><affiliation>University of Toronto, Toronto, Canada</affiliation><affiliation>Correspondence to: Sharon D. Dell, MD,The Hospital for Sick Children, Pediatrics, Division of Respiratory Medicine, 555 University Avenue, Toronto, Ontario, Canada M5G1X8.E‐mail:</affiliation><affiliation>E-mail: sharon.dell@sickkids.ca</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">2013-10</dateIssued><dateCreated encoding="w3cdtf">2013-07-01</dateCreated><dateCaptured encoding="w3cdtf">2012-04-24</dateCaptured><dateValid encoding="w3cdtf">2012-07-25</dateValid><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9‐year‐old child whose sibling died of the same disease in infancy. Pediatr Pulmonol. 2013; 48:1035–1038. © 2013 Wiley Periodicals, Inc.</abstract><note type="funding">US National Institutes of Health HL 54703</note><note type="funding">Eudowood Foundation</note><subject lang="en"><genre>keywords</genre><topic>pediatric</topic><topic>respiratory</topic><topic>ABCA3</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><note type="content"> Additional supporting information may be found in the online version of this article at the publisher's web‐site.Supporting Info Item: Supplementary Figure S1. - Supplementary Figure S2. - Supplementary Figure S3. - Supplementary Figure S4. - Supplementary Figure S5. - </note><subject><genre>article-category</genre><topic>Case Report</topic><topic>Case Report</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>2013</date><detail type="volume"><caption>vol.</caption><number>48</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1035</start><end>1038</end><total>4</total></extent></part></relatedItem><relatedItem type="references" displayLabel="ppul22698-cit-0001"><titleInfo><title>Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland</title></titleInfo><name type="personal"><namePart type="given">R</namePart><namePart type="family">Dinwiddie</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N</namePart><namePart type="family">Sharief</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O</namePart><namePart type="family">Crawford</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Dinwiddie R, Sharief N, Crawford O. 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