Lung disease caused by ABCA3 mutations.
Identifieur interne : 000198 ( PubMed/Corpus ); précédent : 000197; suivant : 000199Lung disease caused by ABCA3 mutations.
Auteurs : Carolin Kröner ; Thomas Wittmann ; Simone Reu ; Veronika Teusch ; Mathias Klemme ; Daniela Rauch ; Meike Hengst ; Matthias Kappler ; Nazan Cobanoglu ; Tugba Sismanlar ; Ayse T. Aslan ; Ilaria Campo ; Marijke Proesmans ; Thomas Schaible ; Susanne Terheggen-Lagro ; Nicolas Regamey ; Ernst Eber ; Jürgen Seidenberg ; Nicolaus Schwerk ; Charalampos Aslanidis ; Peter Lohse ; Frank Brasch ; Ralf Zarbock ; Matthias GrieseSource :
- Thorax [ 1468-3296 ] ; 2017.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (genetics), Adolescent, Adult, Biopsy, Bronchoalveolar Lavage Fluid (chemistry), Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (mortality), Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.
- MESH :
- chemical , genetics : ATP-Binding Cassette Transporters.
- chemistry : Bronchoalveolar Lavage Fluid.
- genetics : Lung Diseases, Interstitial.
- mortality : Lung Diseases, Interstitial.
- Adolescent, Adult, Biopsy, Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.
Abstract
Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.
DOI: 10.1136/thoraxjnl-2016-208649
PubMed: 27516224
Links to Exploration step
pubmed:27516224Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Lung disease caused by <i>ABCA3</i>
mutations.</title>
<author><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name>
<affiliation><nlm:affiliation>Department of Pathology, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name>
<affiliation><nlm:affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name>
<affiliation><nlm:affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name>
<affiliation><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name>
<affiliation><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name>
<affiliation><nlm:affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name>
<affiliation><nlm:affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name>
<affiliation><nlm:affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name>
<affiliation><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<affiliation><nlm:affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name>
<affiliation><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name>
<affiliation><nlm:affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name>
<affiliation><nlm:affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2017">2017</date>
<idno type="RBID">pubmed:27516224</idno>
<idno type="pmid">27516224</idno>
<idno type="doi">10.1136/thoraxjnl-2016-208649</idno>
<idno type="wicri:Area/PubMed/Corpus">000198</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000198</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Lung disease caused by <i>ABCA3</i>
mutations.</title>
<author><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name>
<affiliation><nlm:affiliation>Department of Pathology, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name>
<affiliation><nlm:affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name>
<affiliation><nlm:affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name>
<affiliation><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name>
<affiliation><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name>
<affiliation><nlm:affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name>
<affiliation><nlm:affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name>
<affiliation><nlm:affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name>
<affiliation><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<affiliation><nlm:affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name>
<affiliation><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name>
<affiliation><nlm:affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name>
<affiliation><nlm:affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
<affiliation><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series><title level="j">Thorax</title>
<idno type="eISSN">1468-3296</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (genetics)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Biopsy</term>
<term>Bronchoalveolar Lavage Fluid (chemistry)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Diagnostic Imaging</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lung Diseases, Interstitial (genetics)</term>
<term>Lung Diseases, Interstitial (mortality)</term>
<term>Male</term>
<term>Microscopy, Electron</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Retrospective Studies</term>
<term>Survival Analysis</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term>
</keywords>
<keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Bronchoalveolar Lavage Fluid</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Biopsy</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Diagnostic Imaging</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Microscopy, Electron</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Retrospective Studies</term>
<term>Survival Analysis</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27516224</PMID>
<DateCompleted><Year>2017</Year>
<Month>06</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2018</Year>
<Month>02</Month>
<Day>12</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-3296</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>72</Volume>
<Issue>3</Issue>
<PubDate><Year>2017</Year>
<Month>03</Month>
</PubDate>
</JournalIssue>
<Title>Thorax</Title>
<ISOAbbreviation>Thorax</ISOAbbreviation>
</Journal>
<ArticleTitle>Lung disease caused by <i>ABCA3</i>
mutations.</ArticleTitle>
<Pagination><MedlinePgn>213-220</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1136/thoraxjnl-2016-208649</ELocationID>
<Abstract><AbstractText Label="BACKGROUND">Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.</AbstractText>
<AbstractText Label="METHODS">We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015.</AbstractText>
<AbstractText Label="RESULTS">Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects.</AbstractText>
<AbstractText Label="CONCLUSIONS">Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was <20%. Response to therapies needs to be ascertained in randomised controlled trials.</AbstractText>
<CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kröner</LastName>
<ForeName>Carolin</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wittmann</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Reu</LastName>
<ForeName>Simone</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Pathology, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Teusch</LastName>
<ForeName>Veronika</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Klemme</LastName>
<ForeName>Mathias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rauch</LastName>
<ForeName>Daniela</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hengst</LastName>
<ForeName>Meike</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kappler</LastName>
<ForeName>Matthias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cobanoglu</LastName>
<ForeName>Nazan</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sismanlar</LastName>
<ForeName>Tugba</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aslan</LastName>
<ForeName>Ayse T</ForeName>
<Initials>AT</Initials>
<AffiliationInfo><Affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Campo</LastName>
<ForeName>Ilaria</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Proesmans</LastName>
<ForeName>Marijke</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schaible</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Terheggen-Lagro</LastName>
<ForeName>Susanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Regamey</LastName>
<ForeName>Nicolas</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Eber</LastName>
<ForeName>Ernst</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Seidenberg</LastName>
<ForeName>Jürgen</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schwerk</LastName>
<ForeName>Nicolaus</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aslanidis</LastName>
<ForeName>Charalampos</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lohse</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brasch</LastName>
<ForeName>Frank</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zarbock</LastName>
<ForeName>Ralf</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Griese</LastName>
<ForeName>Matthias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>08</Month>
<Day>11</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Thorax</MedlineTA>
<NlmUniqueID>0417353</NlmUniqueID>
<ISSNLinking>0040-6376</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C441524">ABCA3 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D018528">ATP-Binding Cassette Transporters</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D018528" MajorTopicYN="N">ATP-Binding Cassette Transporters</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D001706" MajorTopicYN="N">Biopsy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D001992" MajorTopicYN="N">Bronchoalveolar Lavage Fluid</DescriptorName>
<QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003952" MajorTopicYN="N">Diagnostic Imaging</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007150" MajorTopicYN="N">Immunohistochemistry</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000401" MajorTopicYN="N">mortality</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008854" MajorTopicYN="N">Microscopy, Electron</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016019" MajorTopicYN="N">Survival Analysis</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">ABCA3</Keyword>
<Keyword MajorTopicYN="Y">Paediatric interstitial lung disease</Keyword>
<Keyword MajorTopicYN="Y">Surfactant protein</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>03</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>06</Month>
<Day>07</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>07</Month>
<Day>12</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>8</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>6</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>8</Month>
<Day>13</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27516224</ArticleId>
<ArticleId IdType="pii">thoraxjnl-2016-208649</ArticleId>
<ArticleId IdType="doi">10.1136/thoraxjnl-2016-208649</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000198 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 000198 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Sante |area= ChloroquineV1 |flux= PubMed |étape= Corpus |type= RBID |clé= pubmed:27516224 |texte= Lung disease caused by ABCA3 mutations. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:27516224" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a ChloroquineV1
This area was generated with Dilib version V0.6.33. |