Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate
Identifieur interne : 001514 ( Main/Exploration ); précédent : 001513; suivant : 001515Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate
Auteurs : Hussain Parappil [Qatar] ; Ahmad Al Baridi [Qatar] ; Sajjad Ur Rahman [Qatar] ; Mahmood H. Kitchi [Qatar] ; P. Ruef [Allemagne] ; M. Griese [Allemagne] ; P. Lohse [Allemagne] ; C. Aslanidis [Allemagne] ; G. Schmitz [Allemagne] ; L. Koch [Allemagne] ; J. Poeschl [Allemagne]Source :
- BMJ Case Reports [ 1757-790X ] ; 2011.
English descriptors
- Teeft :
- Abca3, Abca3 gene, Abca3 mutation, Abnormality, Alveolar type, Brief periods, Case reports, Chest radiograph, Coding region, Distress syndrome, Family history, Fatal surfactant, Further permission, Genetic analysis, Genetic disorders, Heterozygous carriers, High incidence, Homozygous mutation, Interstitial lung disease, Lamellar, Lamellar bodies, Lamellar body, Lung biopsy, Lung disease, Lung function, Lung surfactant, Lung transplant, Lung transplantation, Meconium aspiration, Metabolism, Mutation, Preterm babies, Protracted course, Respiratory distress, Respiratory distress syndrome, Respiratory failure, Surface tension, Surfactant, Surfactant dysfunction, Surfactant metabolism, Surfactant protein, Surfactant proteins, Term babies, Term neonate, Transplant, Tubular myelin.
Abstract
The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.
Url:
DOI: 10.1136/bcr.10.2010.3427
Affiliations:
- Allemagne, Qatar
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Karlsruhe
- Heidelberg, Munich
- Université Louis-et-Maximilien de Munich
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Kitchi</name><affiliation wicri:level="1"><country xml:lang="fr">Qatar</country><wicri:regionArea>Pediatric Intensive Care Unit, Hamad Medical Corporation, Doha</wicri:regionArea><wicri:noRegion>Doha</wicri:noRegion></affiliation></author><author><name sortKey="Ruef, P" sort="Ruef, P" uniqKey="Ruef P" first="P" last="Ruef">P. Ruef</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Griese, M" sort="Griese, M" uniqKey="Griese M" first="M" last="Griese">M. 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Lohse</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical Chemistry – Großhadern, University of Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Aslanidis, C" sort="Aslanidis, C" uniqKey="Aslanidis C" first="C" last="Aslanidis">C. Aslanidis</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg</wicri:regionArea><wicri:noRegion>Regensburg</wicri:noRegion><wicri:noRegion>Regensburg</wicri:noRegion></affiliation></author><author><name sortKey="Koch, L" sort="Koch, L" uniqKey="Koch L" first="L" last="Koch">L. Koch</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Poeschl, J" sort="Poeschl, J" uniqKey="Poeschl J" first="J" last="Poeschl">J. Poeschl</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">BMJ Case Reports</title><title level="j" type="abbrev">BMJ Case Reports</title><idno type="eISSN">1757-790X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2011">2011</date><biblScope unit="volume">2011</biblScope></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Abca3</term><term>Abca3 gene</term><term>Abca3 mutation</term><term>Abnormality</term><term>Alveolar type</term><term>Brief periods</term><term>Case reports</term><term>Chest radiograph</term><term>Coding region</term><term>Distress syndrome</term><term>Family history</term><term>Fatal surfactant</term><term>Further permission</term><term>Genetic analysis</term><term>Genetic disorders</term><term>Heterozygous carriers</term><term>High incidence</term><term>Homozygous mutation</term><term>Interstitial lung disease</term><term>Lamellar</term><term>Lamellar bodies</term><term>Lamellar body</term><term>Lung biopsy</term><term>Lung disease</term><term>Lung function</term><term>Lung surfactant</term><term>Lung transplant</term><term>Lung transplantation</term><term>Meconium aspiration</term><term>Metabolism</term><term>Mutation</term><term>Preterm babies</term><term>Protracted course</term><term>Respiratory distress</term><term>Respiratory distress syndrome</term><term>Respiratory failure</term><term>Surface tension</term><term>Surfactant</term><term>Surfactant dysfunction</term><term>Surfactant metabolism</term><term>Surfactant protein</term><term>Surfactant proteins</term><term>Term babies</term><term>Term neonate</term><term>Transplant</term><term>Tubular myelin</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Qatar</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Karlsruhe</li></region><settlement><li>Heidelberg</li><li>Munich</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Qatar"><noRegion><name sortKey="Parappil, Hussain" sort="Parappil, Hussain" uniqKey="Parappil H" first="Hussain" last="Parappil">Hussain Parappil</name></noRegion><name sortKey="Al Baridi, Ahmad" sort="Al Baridi, Ahmad" uniqKey="Al Baridi A" first="Ahmad" last="Al Baridi">Ahmad Al Baridi</name><name sortKey="Kitchi, Mahmood H" sort="Kitchi, Mahmood H" uniqKey="Kitchi M" first="Mahmood H" last="Kitchi">Mahmood H. Kitchi</name><name sortKey="Parappil, Hussain" sort="Parappil, Hussain" uniqKey="Parappil H" first="Hussain" last="Parappil">Hussain Parappil</name><name sortKey="Ur Rahman, Sajjad" sort="Ur Rahman, Sajjad" uniqKey="Ur Rahman S" first="Sajjad" last="Ur Rahman">Sajjad Ur Rahman</name><name sortKey="Ur Rahman, Sajjad" sort="Ur Rahman, Sajjad" uniqKey="Ur Rahman S" first="Sajjad" last="Ur Rahman">Sajjad Ur Rahman</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Ruef, P" sort="Ruef, P" uniqKey="Ruef P" first="P" last="Ruef">P. Ruef</name></region><name sortKey="Aslanidis, C" sort="Aslanidis, C" uniqKey="Aslanidis C" first="C" last="Aslanidis">C. Aslanidis</name><name sortKey="Griese, M" sort="Griese, M" uniqKey="Griese M" first="M" last="Griese">M. Griese</name><name sortKey="Koch, L" sort="Koch, L" uniqKey="Koch L" first="L" last="Koch">L. Koch</name><name sortKey="Lohse, P" sort="Lohse, P" uniqKey="Lohse P" first="P" last="Lohse">P. Lohse</name><name sortKey="Poeschl, J" sort="Poeschl, J" uniqKey="Poeschl J" first="J" last="Poeschl">J. Poeschl</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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