Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Identifieur interne : 001013 ( Main/Exploration ); précédent : 001012; suivant : 001014Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Auteurs : J. Winter [Allemagne] ; S. Essmann [Allemagne] ; A. Kidszun [Allemagne] ; C. Aslanidis [Allemagne] ; M. Griese [Allemagne] ; K. Poplawska [Allemagne] ; M. Bartsch [Allemagne] ; G. Schmitz [Allemagne] ; E. Mildenberger [Allemagne]Source :
- Klinische Padiatrie [ 1439-3824 ] ; 2014.
Descripteurs français
- KwdFr :
- Aberrations des chromosomes, Codon stop (génétique), Femelle, Gènes récessifs (génétique), Homozygote, Hormones corticosurrénaliennes (usage thérapeutique), Humains, Hydroxychloroquine (usage thérapeutique), Insuffisance respiratoire (génétique), Insuffisance respiratoire (traitement médicamenteux), Issue fatale, Macrolides (usage thérapeutique), Mutation (génétique), Nourrisson, Nouveau-né, Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (traitement médicamenteux), Syndrome de détresse respiratoire du nouveau-né (génétique), Syndrome de détresse respiratoire du nouveau-né (traitement médicamenteux), Transporteurs ABC (génétique), Échec thérapeutique.
- MESH :
- génétique : Codon stop, Gènes récessifs, Insuffisance respiratoire, Mutation, Pneumopathies interstitielles, Syndrome de détresse respiratoire du nouveau-né, Transporteurs ABC.
- traitement médicamenteux : Insuffisance respiratoire, Pneumopathies interstitielles, Syndrome de détresse respiratoire du nouveau-né.
- usage thérapeutique : Hormones corticosurrénaliennes, Hydroxychloroquine, Macrolides.
- Aberrations des chromosomes, Femelle, Homozygote, Humains, Issue fatale, Nourrisson, Nouveau-né, Échec thérapeutique.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (genetics), Adrenal Cortex Hormones (therapeutic use), Chromosome Aberrations, Codon, Terminator (genetics), Fatal Outcome, Female, Genes, Recessive (genetics), Homozygote, Humans, Hydroxychloroquine (therapeutic use), Infant, Infant, Newborn, Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Macrolides (therapeutic use), Mutation (genetics), Respiratory Distress Syndrome, Newborn (drug therapy), Respiratory Distress Syndrome, Newborn (genetics), Respiratory Insufficiency (drug therapy), Respiratory Insufficiency (genetics), Treatment Failure.
- MESH :
- chemical , genetics : ATP-Binding Cassette Transporters, Codon, Terminator.
- chemical , therapeutic use : Adrenal Cortex Hormones, Hydroxychloroquine, Macrolides.
- drug therapy : Lung Diseases, Interstitial, Respiratory Distress Syndrome, Newborn, Respiratory Insufficiency.
- genetics : Genes, Recessive, Lung Diseases, Interstitial, Mutation, Respiratory Distress Syndrome, Newborn, Respiratory Insufficiency.
- Chromosome Aberrations, Fatal Outcome, Female, Homozygote, Humans, Infant, Infant, Newborn, Treatment Failure.
Abstract
Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.
DOI: 10.1055/s-0033-1363687
PubMed: 24633979
Affiliations:
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Winter</name><affiliation wicri:level="1"><nlm:affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:regionArea><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Essmann, S" sort="Essmann, S" uniqKey="Essmann S" first="S" last="Essmann">S. 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Aslanidis</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg</wicri:regionArea><wicri:noRegion>University Hospital Regensburg</wicri:noRegion><wicri:noRegion>University Hospital Regensburg</wicri:noRegion><wicri:noRegion>University Hospital Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Griese, M" sort="Griese, M" uniqKey="Griese M" first="M" last="Griese">M. Griese</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Clinic and Policlinic, Dr. von Hauner Children's Hospital, University Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Clinic and Policlinic, Dr. von Hauner Children's Hospital, University Munich</wicri:regionArea><wicri:noRegion>University Munich</wicri:noRegion><wicri:noRegion>University Munich</wicri:noRegion><wicri:noRegion>University Munich</wicri:noRegion></affiliation></author><author><name sortKey="Poplawska, K" sort="Poplawska, K" uniqKey="Poplawska K" first="K" last="Poplawska">K. Poplawska</name><affiliation wicri:level="1"><nlm:affiliation>Pediatric Pulmonology, Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Pulmonology, Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz</wicri:regionArea><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes -Gutenberg University Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Bartsch, M" sort="Bartsch, M" uniqKey="Bartsch M" first="M" last="Bartsch">M. Bartsch</name><affiliation wicri:level="1"><nlm:affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:regionArea><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion></affiliation></author><author><name sortKey="Schmitz, G" sort="Schmitz, G" uniqKey="Schmitz G" first="G" last="Schmitz">G. Schmitz</name><affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg</wicri:regionArea><wicri:noRegion>University Hospital Regensburg</wicri:noRegion><wicri:noRegion>University Hospital Regensburg</wicri:noRegion><wicri:noRegion>University Hospital Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Mildenberger, E" sort="Mildenberger, E" uniqKey="Mildenberger E" first="E" last="Mildenberger">E. Mildenberger</name><affiliation wicri:level="1"><nlm:affiliation>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neonatology, Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:regionArea><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion><wicri:noRegion>Children's Hospital of the University Medical Center of the Johannes Gutenberg University Mainz</wicri:noRegion></affiliation></author></analytic><series><title level="j">Klinische Padiatrie</title><idno type="eISSN">1439-3824</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (genetics)</term><term>Adrenal Cortex Hormones (therapeutic use)</term><term>Chromosome Aberrations</term><term>Codon, Terminator (genetics)</term><term>Fatal Outcome</term><term>Female</term><term>Genes, Recessive (genetics)</term><term>Homozygote</term><term>Humans</term><term>Hydroxychloroquine (therapeutic use)</term><term>Infant</term><term>Infant, Newborn</term><term>Lung Diseases, Interstitial (drug therapy)</term><term>Lung Diseases, Interstitial (genetics)</term><term>Macrolides (therapeutic use)</term><term>Mutation (genetics)</term><term>Respiratory Distress Syndrome, Newborn (drug therapy)</term><term>Respiratory Distress Syndrome, Newborn (genetics)</term><term>Respiratory Insufficiency (drug therapy)</term><term>Respiratory Insufficiency (genetics)</term><term>Treatment Failure</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Codon stop (génétique)</term><term>Femelle</term><term>Gènes récessifs (génétique)</term><term>Homozygote</term><term>Hormones corticosurrénaliennes (usage thérapeutique)</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Insuffisance respiratoire (génétique)</term><term>Insuffisance respiratoire (traitement médicamenteux)</term><term>Issue fatale</term><term>Macrolides (usage thérapeutique)</term><term>Mutation (génétique)</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (traitement médicamenteux)</term><term>Syndrome de détresse respiratoire du nouveau-né (génétique)</term><term>Syndrome de détresse respiratoire du nouveau-né (traitement médicamenteux)</term><term>Transporteurs ABC (génétique)</term><term>Échec thérapeutique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term><term>Codon, Terminator</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Adrenal Cortex Hormones</term><term>Hydroxychloroquine</term><term>Macrolides</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term><term>Respiratory Distress Syndrome, Newborn</term><term>Respiratory Insufficiency</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genes, Recessive</term><term>Lung Diseases, Interstitial</term><term>Mutation</term><term>Respiratory Distress Syndrome, Newborn</term><term>Respiratory Insufficiency</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Codon stop</term><term>Gènes récessifs</term><term>Insuffisance respiratoire</term><term>Mutation</term><term>Pneumopathies interstitielles</term><term>Syndrome de détresse respiratoire du nouveau-né</term><term>Transporteurs ABC</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Insuffisance respiratoire</term><term>Pneumopathies interstitielles</term><term>Syndrome de détresse respiratoire du nouveau-né</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Hormones corticosurrénaliennes</term><term>Hydroxychloroquine</term><term>Macrolides</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Aberrations</term><term>Fatal Outcome</term><term>Female</term><term>Homozygote</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Treatment Failure</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Femelle</term><term>Homozygote</term><term>Humains</term><term>Issue fatale</term><term>Nourrisson</term><term>Nouveau-né</term><term>Échec thérapeutique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Winter, J" sort="Winter, J" uniqKey="Winter J" first="J" last="Winter">J. Winter</name></noRegion><name sortKey="Aslanidis, C" sort="Aslanidis, C" uniqKey="Aslanidis C" first="C" last="Aslanidis">C. Aslanidis</name><name sortKey="Bartsch, M" sort="Bartsch, M" uniqKey="Bartsch M" first="M" last="Bartsch">M. Bartsch</name><name sortKey="Essmann, S" sort="Essmann, S" uniqKey="Essmann S" first="S" last="Essmann">S. Essmann</name><name sortKey="Griese, M" sort="Griese, M" uniqKey="Griese M" first="M" last="Griese">M. Griese</name><name sortKey="Kidszun, A" sort="Kidszun, A" uniqKey="Kidszun A" first="A" last="Kidszun">A. Kidszun</name><name sortKey="Mildenberger, E" sort="Mildenberger, E" uniqKey="Mildenberger E" first="E" last="Mildenberger">E. Mildenberger</name><name sortKey="Poplawska, K" sort="Poplawska, K" uniqKey="Poplawska K" first="K" last="Poplawska">K. Poplawska</name><name sortKey="Schmitz, G" sort="Schmitz, G" uniqKey="Schmitz G" first="G" last="Schmitz">G. Schmitz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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