Genetic testing in children with surfactant dysfunction
Identifieur interne : 001197 ( Istex/Corpus ); précédent : 001196; suivant : 001198Genetic testing in children with surfactant dysfunction
Auteurs : Simona Turcu ; Emma Ashton ; Lucy Jenkins ; Atul Gupta ; Quen MokSource :
- Archives of Disease in Childhood [ 0003-9888 ] ; 2013-07.
English descriptors
- Teeft :
- Abca3, Abca3 cases, Abca3 mutations, Biopsy, Biopsy results, Birth term, Carrier testing, Dysfunction, East thames, Family history, Genetic, Genetic mutations, Genetic testing, Genetics, Great ormond street hospital, Ground glass, Hydroxychloroquine, Interstitial, Interstitial changes, Interstitial lung disease, Lung biopsy, Lung disease, Mutation, Older children, Original article, Ormond, Poor response, Positive cases, Positive family history, Respiratory distress, Respiratory problems, Sftpb, Sftpb cases, Sftpc, Surfactant, Surfactant dysfunction, Surfactant dysfunction disorders, Surfactant genes, Surfactant protein, Term baby, Term neonates, Turcu, Weeks gestation.
Abstract
Objectives To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. Materials and methods Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information. Results 25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication. Conclusions Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.
Url:
DOI: 10.1136/archdischild-2012-303166
Links to Exploration step
ISTEX:499C957DC6B829AAFF1D91BBD3B51D1096B43DC6Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Genetic testing in children with surfactant dysfunction</title><author><name sortKey="Turcu, Simona" sort="Turcu, Simona" uniqKey="Turcu S" first="Simona" last="Turcu">Simona Turcu</name><affiliation><mods:affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of General Pediatrics, Evelina Children Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Ashton, Emma" sort="Ashton, Emma" uniqKey="Ashton E" first="Emma" last="Ashton">Emma Ashton</name><affiliation><mods:affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Jenkins, Lucy" sort="Jenkins, Lucy" uniqKey="Jenkins L" first="Lucy" last="Jenkins">Lucy Jenkins</name><affiliation><mods:affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Gupta, Atul" sort="Gupta, Atul" uniqKey="Gupta A" first="Atul" last="Gupta">Atul Gupta</name><affiliation><mods:affiliation>Department of Respiratory Pediatrics, Kings College Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Mok, Quen" sort="Mok, Quen" uniqKey="Mok Q" first="Quen" last="Mok">Quen Mok</name><affiliation><mods:affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:499C957DC6B829AAFF1D91BBD3B51D1096B43DC6</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1136/archdischild-2012-303166</idno><idno type="url">https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">001197</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001197</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Genetic testing in children with surfactant dysfunction</title><author><name sortKey="Turcu, Simona" sort="Turcu, Simona" uniqKey="Turcu S" first="Simona" last="Turcu">Simona Turcu</name><affiliation><mods:affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of General Pediatrics, Evelina Children Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Ashton, Emma" sort="Ashton, Emma" uniqKey="Ashton E" first="Emma" last="Ashton">Emma Ashton</name><affiliation><mods:affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Jenkins, Lucy" sort="Jenkins, Lucy" uniqKey="Jenkins L" first="Lucy" last="Jenkins">Lucy Jenkins</name><affiliation><mods:affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Gupta, Atul" sort="Gupta, Atul" uniqKey="Gupta A" first="Atul" last="Gupta">Atul Gupta</name><affiliation><mods:affiliation>Department of Respiratory Pediatrics, Kings College Hospital, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Mok, Quen" sort="Mok, Quen" uniqKey="Mok Q" first="Quen" last="Mok">Quen Mok</name><affiliation><mods:affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="ISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2013-07">2013-07</date><biblScope unit="volume">98</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="490">490</biblScope></imprint><idno type="ISSN">0003-9888</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0003-9888</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Abca3</term><term>Abca3 cases</term><term>Abca3 mutations</term><term>Biopsy</term><term>Biopsy results</term><term>Birth term</term><term>Carrier testing</term><term>Dysfunction</term><term>East thames</term><term>Family history</term><term>Genetic</term><term>Genetic mutations</term><term>Genetic testing</term><term>Genetics</term><term>Great ormond street hospital</term><term>Ground glass</term><term>Hydroxychloroquine</term><term>Interstitial</term><term>Interstitial changes</term><term>Interstitial lung disease</term><term>Lung biopsy</term><term>Lung disease</term><term>Mutation</term><term>Older children</term><term>Original article</term><term>Ormond</term><term>Poor response</term><term>Positive cases</term><term>Positive family history</term><term>Respiratory distress</term><term>Respiratory problems</term><term>Sftpb</term><term>Sftpb cases</term><term>Sftpc</term><term>Surfactant</term><term>Surfactant dysfunction</term><term>Surfactant dysfunction disorders</term><term>Surfactant genes</term><term>Surfactant protein</term><term>Term baby</term><term>Term neonates</term><term>Turcu</term><term>Weeks gestation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Objectives To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. Materials and methods Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information. Results 25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication. Conclusions Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>abca3</json:string><json:string>sftpb</json:string><json:string>sftpc</json:string><json:string>surfactant</json:string><json:string>interstitial changes</json:string><json:string>dysfunction</json:string><json:string>genetic testing</json:string><json:string>birth term</json:string><json:string>hydroxychloroquine</json:string><json:string>abca3 mutations</json:string><json:string>surfactant protein</json:string><json:string>biopsy results</json:string><json:string>abca3 cases</json:string><json:string>ormond</json:string><json:string>genetics</json:string><json:string>turcu</json:string><json:string>interstitial</json:string><json:string>lung biopsy</json:string><json:string>great ormond street hospital</json:string><json:string>family history</json:string><json:string>interstitial lung disease</json:string><json:string>biopsy</json:string><json:string>lung disease</json:string><json:string>positive family history</json:string><json:string>sftpb cases</json:string><json:string>positive cases</json:string><json:string>respiratory distress</json:string><json:string>weeks gestation</json:string><json:string>surfactant dysfunction</json:string><json:string>respiratory problems</json:string><json:string>surfactant genes</json:string><json:string>surfactant dysfunction disorders</json:string><json:string>carrier testing</json:string><json:string>older children</json:string><json:string>east thames</json:string><json:string>original article</json:string><json:string>genetic mutations</json:string><json:string>ground glass</json:string><json:string>term baby</json:string><json:string>term neonates</json:string><json:string>poor response</json:string><json:string>genetic</json:string></teeft></keywords><author><json:item><name>Simona Turcu</name><affiliations><json:string>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</json:string><json:string>Department of General Pediatrics, Evelina Children Hospital, London, UK</json:string></affiliations></json:item><json:item><name>Emma Ashton</name><affiliations><json:string>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</json:string></affiliations></json:item><json:item><name>Lucy Jenkins</name><affiliations><json:string>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</json:string></affiliations></json:item><json:item><name>Atul Gupta</name><affiliations><json:string>Department of Respiratory Pediatrics, Kings College Hospital, London, UK</json:string></affiliations></json:item><json:item><name>Quen Mok</name><affiliations><json:string>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>genetic testing</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>surfactant dysfunction</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>paediatric lung disease</value></json:item></subject><articleId><json:string>archdischild-2012-303166</json:string></articleId><arkIstex>ark:/67375/NVC-6MZC6CFQ-V</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><abstract>Objectives To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. Materials and methods Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information. Results 25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication. Conclusions Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.</abstract><qualityIndicators><score>8.308</score><pdfWordCount>3308</pdfWordCount><pdfCharCount>23346</pdfCharCount><pdfVersion>1.6</pdfVersion><pdfPageCount>6</pdfPageCount><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>270</abstractWordCount><abstractCharCount>1912</abstractCharCount><keywordCount>3</keywordCount></qualityIndicators><title>Genetic testing in children with surfactant dysfunction</title><pmid><json:string>23625987</json:string></pmid><genre><json:string>research-article</json:string></genre><host><title>Archives of Disease in Childhood</title><language><json:string>unknown</json:string></language><issn><json:string>0003-9888</json:string></issn><eissn><json:string>1468-2044</json:string></eissn><publisherId><json:string>adc</json:string></publisherId><volume>98</volume><issue>7</issue><pages><first>490</first></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>2011</json:string><json:string>2001</json:string><json:string>1993</json:string><json:string>2006</json:string><json:string>2013-04-26</json:string><json:string>2004</json:string></date><geogName></geogName><orgName><json:string>St Michael’s Hospital Bristol</json:string><json:string>Department of Respiratory Pediatrics, Kings College Hospital, London, UK Correspondence</json:string><json:string>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</json:string><json:string>Wirral University</json:string><json:string>Wellcome Trust Biomedical Research Collaboration Grant</json:string><json:string>Department of General Pediatrics, Evelina Children Hospital, London, UK</json:string><json:string>National Diagnostic Service</json:string><json:string>National Research Ethics Service Committee London</json:string><json:string>Great Ormond Street Hospital, London</json:string><json:string>Department of Pediatric Intensive Care, Great Ormond Street Hospital, Great Ormond Street, London WC</json:string><json:string>Blake University</json:string><json:string>Southampton University</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Quen Mok</json:string><json:string>Lucy Jenkins</json:string><json:string>Laboratory</json:string><json:string>Lawrence Nogee</json:string><json:string>Emma Ashton</json:string></persName><placeName><json:string>Birmingham</json:string><json:string>UK</json:string><json:string>US</json:string><json:string>Baltimore</json:string><json:string>Manchester</json:string><json:string>Coventry</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Peca et al</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/NVC-6MZC6CFQ-V</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - pediatrics</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - pediatrics</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Pediatrics, Perinatology, and Child Health</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>2013</publicationDate><copyrightDate>2013</copyrightDate><doi><json:string>10.1136/archdischild-2012-303166</json:string></doi><id>499C957DC6B829AAFF1D91BBD3B51D1096B43DC6</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/fulltext.pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/bundle.zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/fulltext.tei"><teiHeader><fileDesc><titleStmt><title level="a">Genetic testing in children with surfactant dysfunction</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><availability><licence><p>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</p></availability><date>2013-04-26</date></publicationStmt><notesStmt><note type="research-article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">Genetic testing in children with surfactant dysfunction</title><author xml:id="author-0000"><persName><forename type="first">Simona</forename><surname>Turcu</surname></persName><affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</affiliation><affiliation>Department of General Pediatrics, Evelina Children Hospital, London, UK</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Emma</forename><surname>Ashton</surname></persName><affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Lucy</forename><surname>Jenkins</surname></persName><affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Atul</forename><surname>Gupta</surname></persName><affiliation>Department of Respiratory Pediatrics, Kings College Hospital, London, UK</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Quen</forename><surname>Mok</surname></persName><affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</affiliation></author><idno type="istex">499C957DC6B829AAFF1D91BBD3B51D1096B43DC6</idno><idno type="ark">ark:/67375/NVC-6MZC6CFQ-V</idno><idno type="DOI">10.1136/archdischild-2012-303166</idno><idno type="href">archdischild-98-490.pdf</idno><idno type="article-id">archdischild-2012-303166</idno><idno type="PMID">23625987</idno><idno type="local">archdischild;98/7/490</idno></analytic><monogr><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="pISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><idno type="publisher-id">adc</idno><idno type="PublisherID-hwp">archdischild</idno><idno type="PublisherID-nlm-ta">Arch Dis Child</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2013-07"></date><biblScope unit="volume">98</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="490">490</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2013-04-26</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Objectives To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. Materials and methods Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information. Results 25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication. Conclusions Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.</p></abstract><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>genetic testing</term></item><item><term>surfactant dysfunction</term></item><item><term>paediatric lung disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2013-04-26">Created</change><change when="2013-07">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">archdischild</journal-id><journal-id journal-id-type="nlm-ta">Arch Dis Child</journal-id><journal-id journal-id-type="publisher-id">adc</journal-id><journal-title>Archives of Disease in Childhood</journal-title><abbrev-journal-title abbrev-type="publisher">Arch Dis Child</abbrev-journal-title><abbrev-journal-title>Arch Dis Child</abbrev-journal-title><issn pub-type="ppub">0003-9888</issn><issn pub-type="epub">1468-2044</issn><publisher><publisher-name>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">archdischild-2012-303166</article-id><article-id pub-id-type="doi">10.1136/archdischild-2012-303166</article-id><article-id pub-id-type="other">archdischild;98/7/490</article-id><article-id pub-id-type="other">archdischild;archdischild-2012-303166</article-id><article-id pub-id-type="pmid">23625987</article-id><article-id pub-id-type="other">490</article-id><article-id pub-id-type="other">archdischild-2012-303166</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original article</subject></subj-group></article-categories><title-group><article-title>Genetic testing in children with surfactant dysfunction</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Turcu</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Ashton</surname><given-names>Emma</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Jenkins</surname><given-names>Lucy</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gupta</surname><given-names>Atul</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Mok</surname><given-names>Quen</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Department of Pediatric Intensive Care</addr-line>, <institution>Great Ormond Street Hospital</institution>, <addr-line>London</addr-line>, <country>UK</country></aff><aff id="af2"><label>2</label><addr-line>Department of General Pediatrics</addr-line>, <institution>Evelina Children Hospital</institution>, <addr-line>London</addr-line>, <country>UK</country></aff><aff id="af3"><label>3</label><addr-line>North East Thames Regional Genetics Laboratory</addr-line>, <institution>Great Ormond Street Hospital</institution>, <addr-line>London</addr-line>, <country>UK</country></aff><aff id="af4"><label>4</label><addr-line>Department of Respiratory Pediatrics</addr-line>, <institution>Kings College Hospital</institution>, <addr-line>London</addr-line>, <country>UK</country></aff><author-notes><corresp><label>Correspondence to</label> Dr Quen Mok, Department of Pediatric Intensive Care, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; <email>quen.mok@gosh.nhs.uk</email></corresp></author-notes><pub-date pub-type="epub-original"><day>26</day><month>4</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>26</day><month>4</month><year>2013</year></pub-date><volume>98</volume><volume-id pub-id-type="other">98</volume-id><volume-id pub-id-type="other">98</volume-id><issue>7</issue><issue-id pub-id-type="other">archdischild;98/7</issue-id><issue-id pub-id-type="other">7</issue-id><issue-id pub-id-type="other">98/7</issue-id><fpage>490</fpage><history><date date-type="received"><day>14</day><month>10</month><year>2012</year></date><date date-type="rev-recd"><day>1</day><month>4</month><year>2013</year></date><date date-type="accepted"><day>2</day><month>4</month><year>2013</year></date></history><permissions><copyright-statement>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement><copyright-year>2013</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="archdischild-98-490.pdf"></self-uri><abstract><sec><title>Objectives</title><p>To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems.</p></sec><sec><title>Materials and methods</title><p>Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information.</p></sec><sec><title>Results</title><p>25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication.</p></sec><sec><title>Conclusions</title><p>Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.</p></sec></abstract><kwd-group><kwd>genetic testing</kwd><kwd>surfactant dysfunction</kwd><kwd>paediatric lung disease</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Genetic testing in children with surfactant dysfunction</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Genetic testing in children with surfactant dysfunction</title></titleInfo><name type="personal"><namePart type="given">Simona</namePart><namePart type="family">Turcu</namePart><affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</affiliation><affiliation>Department of General Pediatrics, Evelina Children Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Emma</namePart><namePart type="family">Ashton</namePart><affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lucy</namePart><namePart type="family">Jenkins</namePart><affiliation>North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Atul</namePart><namePart type="family">Gupta</namePart><affiliation>Department of Respiratory Pediatrics, Kings College Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Quen</namePart><namePart type="family">Mok</namePart><affiliation>Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><dateIssued encoding="w3cdtf">2013-07</dateIssued><dateCreated encoding="w3cdtf">2013-04-26</dateCreated><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract>Objectives To present the UK experience in genetic diagnoses of surfactant protein dysfunction disorders and develop a referral algorithm for neonates and children with persistent respiratory problems. Materials and methods Between 2006 and 2011, 427 cases were referred for surfactant mutation analyses to the North East Thames Regional Molecular Genetics Laboratory at Great Ormond Street Hospital, London. The results were reviewed and referring physicians of mutation positive cases contacted to complete a questionnaire providing clinical, radiological, histological and outcome information. Results 25 new cases were found to have genetic mutations for surfactant dysfunction disorders (7.5%), with six resulting in surfactant protein B dysfunction, seven surfactant protein C dysfunction and 12 ATP-binding cassette subfamily A member 3 (ABCA3) dysfunction. The referrals were from 15 different paediatric centres. In addition, three affected surfactant protein B (SFTPB) cases were prenatal diagnoses, following the birth of previously affected children. The majority of the confirmed cases (23 of 25) were born after 37 weeks gestation. All children with SFTPB dysfunction and the majority of ABCA3 patients presented with respiratory distress at birth. All SFTPB cases died from intractable respiratory failure. The outcome for ABCA3 mutations was variable with seven survivors. The clinical and radiological presentation of surfactant protein C (SFTPC) patients suggested mainly interstitial lung process with the majority surviving on medication. Conclusions Surfactant mutation analysis is now well established in the UK and allows better genetic diagnosis and counselling. The rarity of the condition makes it difficult to develop a validated algorithm for genetic evaluation with a need for international networking. Referrals need to be rationalised for the service to be time and cost effective.</abstract><subject><genre>keywords</genre><topic>genetic testing</topic><topic>surfactant dysfunction</topic><topic>paediatric lung disease</topic></subject><relatedItem type="host"><titleInfo><title>Archives of Disease in Childhood</title></titleInfo><titleInfo type="abbreviated"><title>Arch Dis Child</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><identifier type="ISSN">0003-9888</identifier><identifier type="eISSN">1468-2044</identifier><identifier type="PublisherID">adc</identifier><identifier type="PublisherID-hwp">archdischild</identifier><identifier type="PublisherID-nlm-ta">Arch Dis Child</identifier><part><date>2013</date><detail type="volume"><caption>vol.</caption><number>98</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>490</start></extent></part></relatedItem><identifier type="istex">499C957DC6B829AAFF1D91BBD3B51D1096B43DC6</identifier><identifier type="ark">ark:/67375/NVC-6MZC6CFQ-V</identifier><identifier type="DOI">10.1136/archdischild-2012-303166</identifier><identifier type="href">archdischild-98-490.pdf</identifier><identifier type="ArticleID">archdischild-2012-303166</identifier><identifier type="PMID">23625987</identifier><identifier type="local">archdischild;98/7/490</identifier><accessCondition type="use and reproduction" contentType="copyright">Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</recordContentSource><recordOrigin>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/record.json</uri></json:item></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-6MZC6CFQ-V/annexes.jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001197 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001197 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Sante
|area= ChloroquineV1
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:499C957DC6B829AAFF1D91BBD3B51D1096B43DC6
|texte= Genetic testing in children with surfactant dysfunction
}}
| This area was generated with Dilib version V0.6.33. |  |