A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
Identifieur interne : 000B45 ( Main/Exploration ); précédent : 000B44; suivant : 000B46A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome
Auteurs : Georgios Mitsiakos [Grèce] ; Christos Tsakalidis [Grèce] ; Paraskevi Karagianni [Grèce] ; Dimitra Gialamprinou [Grèce] ; Ilias Chatziioannidis [Grèce] ; Ioannis Papoulidis [Grèce] ; Ioannis Tsanakas [Grèce] ; Vasiliki Soubasi [Grèce]Source :
- Medicina [ 1010-660X ] ; 2019.
Descripteurs français
- KwdFr :
- Azithromycine (usage thérapeutique), Hormones corticosurrénaliennes (usage thérapeutique), Humains, Hydroxychloroquine (usage thérapeutique), Mutation (génétique), Mâle, Nouveau-né, Pneumopathies interstitielles (génétique), Surfactants pulmonaires (antagonistes et inhibiteurs), Syndrome de détresse respiratoire du nouveau-né (génétique), Syndrome de détresse respiratoire du nouveau-né (imagerie diagnostique), Syndrome de détresse respiratoire du nouveau-né (étiologie), Tomodensitométrie (), Transporteurs ABC (effets indésirables), Transporteurs ABC (génétique).
- MESH :
- antagonistes et inhibiteurs : Surfactants pulmonaires.
- effets indésirables : Transporteurs ABC.
- génétique : Mutation, Pneumopathies interstitielles, Syndrome de détresse respiratoire du nouveau-né, Transporteurs ABC.
- imagerie diagnostique : Syndrome de détresse respiratoire du nouveau-né.
- usage thérapeutique : Azithromycine, Hormones corticosurrénaliennes, Hydroxychloroquine.
- étiologie : Syndrome de détresse respiratoire du nouveau-né.
- Humains, Mâle, Nouveau-né, Tomodensitométrie.
English descriptors
- KwdEn :
- ATP-Binding Cassette Transporters (adverse effects), ATP-Binding Cassette Transporters (genetics), Adrenal Cortex Hormones (therapeutic use), Azithromycin (therapeutic use), Humans, Hydroxychloroquine (therapeutic use), Infant, Newborn, Lung Diseases, Interstitial (genetics), Male, Mutation (genetics), Pulmonary Surfactants (antagonists & inhibitors), Respiratory Distress Syndrome, Newborn (diagnostic imaging), Respiratory Distress Syndrome, Newborn (etiology), Respiratory Distress Syndrome, Newborn (genetics), Tomography, X-Ray Computed (methods).
- MESH :
- chemical , adverse effects : ATP-Binding Cassette Transporters.
- chemical , antagonists & inhibitors : Pulmonary Surfactants.
- chemical , genetics : ATP-Binding Cassette Transporters.
- chemical , therapeutic use : Adrenal Cortex Hormones, Azithromycin, Hydroxychloroquine.
- diagnostic imaging : Respiratory Distress Syndrome, Newborn.
- etiology : Respiratory Distress Syndrome, Newborn.
- genetics : Lung Diseases, Interstitial, Mutation, Respiratory Distress Syndrome, Newborn.
- methods : Tomography, X-Ray Computed.
- Humans, Infant, Newborn, Male.
Abstract
Mutations in adenosine triphosphate-binding cassette transporter A3 (
Url:
DOI: 10.3390/medicina55070389
PubMed: 31331098
PubMed Central: 6681327
Affiliations:
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Le document en format XML
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first="Vasiliki" last="Soubasi">Vasiliki Soubasi</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31331098</idno><idno type="pmc">6681327</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681327</idno><idno type="RBID">PMC:6681327</idno><idno type="doi">10.3390/medicina55070389</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000316</idno><idno type="wicri:explorRef" wicri:stream="Pmc" 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56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Tsakalidis, Christos" sort="Tsakalidis, Christos" uniqKey="Tsakalidis C" first="Christos" last="Tsakalidis">Christos Tsakalidis</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Karagianni, Paraskevi" sort="Karagianni, Paraskevi" uniqKey="Karagianni P" first="Paraskevi" last="Karagianni">Paraskevi Karagianni</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Gialamprinou, Dimitra" sort="Gialamprinou, Dimitra" uniqKey="Gialamprinou D" first="Dimitra" last="Gialamprinou">Dimitra Gialamprinou</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Chatziioannidis, Ilias" sort="Chatziioannidis, Ilias" uniqKey="Chatziioannidis I" first="Ilias" last="Chatziioannidis">Ilias Chatziioannidis</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Papoulidis, Ioannis" sort="Papoulidis, Ioannis" uniqKey="Papoulidis I" first="Ioannis" last="Papoulidis">Ioannis Papoulidis</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author><author><name sortKey="Tsanakas, Ioannis" sort="Tsanakas, Ioannis" uniqKey="Tsanakas I" first="Ioannis" last="Tsanakas">Ioannis Tsanakas</name><affiliation wicri:level="1"><nlm:aff id="af2-medicina-55-00389">3rd Department of Pediatrics, Aristotle University of Thessaloniki, “Hippokratio” Hospital, Thessaloniki, PC 54642, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>3rd Department of Pediatrics, Aristotle University of Thessaloniki, “Hippokratio” Hospital, Thessaloniki, PC 54642</wicri:regionArea><wicri:noRegion>PC 54642</wicri:noRegion></affiliation></author><author><name sortKey="Soubasi, Vasiliki" sort="Soubasi, Vasiliki" uniqKey="Soubasi V" first="Vasiliki" last="Soubasi">Vasiliki Soubasi</name><affiliation wicri:level="1"><nlm:aff id="af1-medicina-55-00389">2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403, Greece</nlm:aff><country xml:lang="fr">Grèce</country><wicri:regionArea>2nd Neonatology Department and Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, “Papageorgiou” Hospital, Thessaloniki, PC 56403</wicri:regionArea><wicri:noRegion>PC 56403</wicri:noRegion></affiliation></author></analytic><series><title level="j">Medicina</title><idno type="ISSN">1010-660X</idno><idno type="eISSN">1648-9144</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (adverse effects)</term><term>ATP-Binding Cassette Transporters (genetics)</term><term>Adrenal Cortex Hormones (therapeutic use)</term><term>Azithromycin (therapeutic use)</term><term>Humans</term><term>Hydroxychloroquine (therapeutic use)</term><term>Infant, Newborn</term><term>Lung Diseases, Interstitial (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Pulmonary Surfactants (antagonists & inhibitors)</term><term>Respiratory Distress Syndrome, Newborn (diagnostic imaging)</term><term>Respiratory Distress Syndrome, Newborn (etiology)</term><term>Respiratory Distress Syndrome, Newborn (genetics)</term><term>Tomography, X-Ray Computed (methods)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Azithromycine (usage thérapeutique)</term><term>Hormones corticosurrénaliennes (usage thérapeutique)</term><term>Humains</term><term>Hydroxychloroquine (usage thérapeutique)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Pneumopathies interstitielles (génétique)</term><term>Surfactants pulmonaires (antagonistes et inhibiteurs)</term><term>Syndrome de détresse respiratoire du nouveau-né (génétique)</term><term>Syndrome de détresse respiratoire du nouveau-né (imagerie diagnostique)</term><term>Syndrome de détresse respiratoire du nouveau-né (étiologie)</term><term>Tomodensitométrie ()</term><term>Transporteurs ABC (effets indésirables)</term><term>Transporteurs ABC (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>ATP-Binding Cassette Transporters</term></keywords><keywords scheme="MESH" type="chemical" qualifier="antagonists & inhibitors" xml:lang="en"><term>Pulmonary Surfactants</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Adrenal Cortex Hormones</term><term>Azithromycin</term><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" qualifier="antagonistes et inhibiteurs" xml:lang="fr"><term>Surfactants pulmonaires</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Respiratory Distress Syndrome, Newborn</term></keywords><keywords scheme="MESH" qualifier="effets indésirables" xml:lang="fr"><term>Transporteurs ABC</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Respiratory Distress Syndrome, Newborn</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term><term>Mutation</term><term>Respiratory Distress Syndrome, Newborn</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><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="imagerie diagnostique" xml:lang="fr"><term>Syndrome de détresse respiratoire du nouveau-né</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Azithromycine</term><term>Hormones corticosurrénaliennes</term><term>Hydroxychloroquine</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Syndrome de détresse respiratoire du nouveau-né</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Infant, Newborn</term><term>Male</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Mâle</term><term>Nouveau-né</term><term>Tomodensitométrie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Mutations in adenosine triphosphate-binding cassette transporter A3 (<italic>ABCA3</italic>) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying <italic>ABCA3</italic> gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense <italic>ABCA3</italic> gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with <italic>ABCA3</italic> gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Griese, M" uniqKey="Griese M">M. Griese</name></author><author><name sortKey="Haug, M" uniqKey="Haug M">M. Haug</name></author><author><name sortKey="Brasch, F" uniqKey="Brasch F">F. Brasch</name></author><author><name sortKey="Freihorst, A" uniqKey="Freihorst A">A. Freihorst</name></author><author><name sortKey="Lohse, P" uniqKey="Lohse P">P. Lohse</name></author><author><name sortKey="Von Kries, R" uniqKey="Von Kries R">R. von Kries</name></author><author><name sortKey="Zimmermann, T" uniqKey="Zimmermann T">T. 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Mildenberger</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Grèce</li></country></list><tree><country name="Grèce"><noRegion><name sortKey="Mitsiakos, Georgios" sort="Mitsiakos, Georgios" uniqKey="Mitsiakos G" first="Georgios" last="Mitsiakos">Georgios Mitsiakos</name></noRegion><name sortKey="Chatziioannidis, Ilias" sort="Chatziioannidis, Ilias" uniqKey="Chatziioannidis I" first="Ilias" last="Chatziioannidis">Ilias Chatziioannidis</name><name sortKey="Gialamprinou, Dimitra" sort="Gialamprinou, Dimitra" uniqKey="Gialamprinou D" first="Dimitra" last="Gialamprinou">Dimitra Gialamprinou</name><name sortKey="Karagianni, Paraskevi" sort="Karagianni, Paraskevi" uniqKey="Karagianni P" first="Paraskevi" last="Karagianni">Paraskevi Karagianni</name><name sortKey="Papoulidis, Ioannis" sort="Papoulidis, Ioannis" uniqKey="Papoulidis I" first="Ioannis" last="Papoulidis">Ioannis Papoulidis</name><name sortKey="Soubasi, Vasiliki" sort="Soubasi, Vasiliki" uniqKey="Soubasi V" first="Vasiliki" last="Soubasi">Vasiliki Soubasi</name><name sortKey="Tsakalidis, Christos" sort="Tsakalidis, Christos" uniqKey="Tsakalidis C" first="Christos" last="Tsakalidis">Christos Tsakalidis</name><name sortKey="Tsanakas, Ioannis" sort="Tsanakas, Ioannis" uniqKey="Tsanakas I" first="Ioannis" last="Tsanakas">Ioannis Tsanakas</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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