ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids
Identifieur interne : 000533 ( Istex/Corpus ); précédent : 000532; suivant : 000534ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids
Auteurs : Jason Kg Tan ; Conor Murray ; Andre SchultzSource :
- Pediatric Pulmonology [ 8755-6863 ] ; 2016-01.
Abstract
We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. Pediatr Pulmonol. 2016;51:E1–E3. © 2015 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.23260
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ISTEX:420FFD77FF1EC3B6B194D519357DF162881A71E2Le document en format XML
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Roberts road, Subiaco, Perth, Western Australia, AustraliaE‐mail:</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: Jason.Tan@health.wa.gov.au</mods:affiliation></affiliation></author><author><name sortKey="Murray, Conor" sort="Murray, Conor" uniqKey="Murray C" first="Conor" last="Murray">Conor Murray</name><affiliation><mods:affiliation>Princess Margaret Hospital, Western Australia, Perth</mods:affiliation></affiliation></author><author><name sortKey="Schultz, Andre" sort="Schultz, Andre" uniqKey="Schultz A" first="Andre" last="Schultz">Andre Schultz</name><affiliation><mods:affiliation>Princess Margaret Hospital, Perth, Western Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>Telethon Kids Institute, Western Australia, Perth</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pediatric Pulmonology</title><title level="j" type="alt">PEDIATRIC PULMONOLOGY</title><idno type="ISSN">8755-6863</idno><idno type="eISSN">1099-0496</idno><imprint><biblScope unit="vol">51</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="E1">E1</biblScope><biblScope unit="page" to="E3">E3</biblScope><biblScope unit="page-count">3</biblScope><date type="published" when="2016-01">2016-01</date></imprint><idno type="ISSN">8755-6863</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">8755-6863</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. Pediatr Pulmonol. 2016;51:E1–E3. © 2015 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Jason KG Tan FRACP</name><affiliations><json:string>Princess Margaret Hospital, Western Australia, Perth</json:string><json:string>Correspondence to: Jason K Tan, Neonatal intensive care unit, Princess Margaret Hospital. Roberts road, Subiaco, Perth, Western Australia, AustraliaE‐mail:</json:string><json:string>E-mail: Jason.Tan@health.wa.gov.au</json:string></affiliations></json:item><json:item><name>Conor Murray FRACP</name><affiliations><json:string>Princess Margaret Hospital, Western Australia, Perth</json:string></affiliations></json:item><json:item><name>Andre Schultz PhD, FRACP</name><affiliations><json:string>Princess Margaret Hospital, Perth, Western Australia</json:string><json:string>Telethon Kids Institute, Western Australia, Perth</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>surfactant metabolism dysfunction</value></json:item><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>prematurity</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>VLBW</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>glucocorticosteroids</value></json:item></subject><articleId><json:string>PPUL23260</json:string></articleId><arkIstex>ark:/67375/WNG-X286J23X-7</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. 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The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. <b>Pediatr Pulmonol. 2016;51:E1–E3.</b> © 2015 Wiley Periodicals, Inc.</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="ppul23260-note-0001" numbered="no">Conflict of Interest: None.</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>ABCA3 Lung Disease and Prematurity</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids</title></titleInfo><name type="personal"><namePart type="given">Jason KG</namePart><namePart type="family">Tan</namePart><namePart type="termsOfAddress">FRACP</namePart><affiliation>Princess Margaret Hospital, Western Australia, Perth</affiliation><affiliation>Correspondence to: Jason K Tan, Neonatal intensive care unit, Princess Margaret Hospital. Roberts road, Subiaco, Perth, Western Australia, AustraliaE‐mail:</affiliation><affiliation>E-mail: Jason.Tan@health.wa.gov.au</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Conor</namePart><namePart type="family">Murray</namePart><namePart type="termsOfAddress">FRACP</namePart><affiliation>Princess Margaret Hospital, Western Australia, Perth</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andre</namePart><namePart type="family">Schultz</namePart><namePart type="termsOfAddress">PhD, FRACP</namePart><affiliation>Princess Margaret Hospital, Perth, Western Australia</affiliation><affiliation>Telethon Kids Institute, Western Australia, Perth</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">2016-01</dateIssued><dateCreated encoding="w3cdtf">2015-07-24</dateCreated><dateCaptured encoding="w3cdtf">2015-05-20</dateCaptured><dateValid encoding="w3cdtf">2015-07-01</dateValid><copyrightDate encoding="w3cdtf">2016</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 case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. Pediatr Pulmonol. 2016;51:E1–E3. © 2015 Wiley Periodicals, Inc.</abstract><note type="funding">None</note><subject lang="en"><genre>keywords</genre><topic>surfactant metabolism dysfunction</topic><topic>interstitial lung disease</topic><topic>prematurity</topic><topic>VLBW</topic><topic>glucocorticosteroids</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 Published Online</topic><topic>Case Report Published Online</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>2016</date><detail type="volume"><caption>vol.</caption><number>51</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>E1</start><end>E3</end><total>3</total></extent></part></relatedItem><relatedItem type="references" displayLabel="ppul23260-cit-0001"><titleInfo><title>ABCA3 transporter deficiency</title></titleInfo><name type="personal"><namePart type="given">D</namePart><namePart type="family">Hayes Jr.</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">EA</namePart><namePart type="family">Lloyd</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">JA</namePart><namePart type="family">Fitch</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Bush</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Hayes D, Jr., Lloyd EA, Fitch JA, Bush A. ABCA3 transporter deficiency. 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