Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
Identifieur interne : 001B46 ( Main/Exploration ); précédent : 001B45; suivant : 001B47Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
Auteurs : Takuya Yokota [Japon] ; Yoshihiro Matsumura [Japon] ; Nobuhiro Ban [Japon] ; Tadashi Matsubayashi [Japon] ; Nobuya Inagaki [Japon]Source :
- European Journal of Pediatrics [ 0340-6199 ] ; 2008-06-01.
English descriptors
Abstract
Abstract: A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. BALF showed mature SP-B. Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.
Url:
DOI: 10.1007/s00431-007-0542-8
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000712
- to stream Istex, to step Curation: 000712
- to stream Istex, to step Checkpoint: 000A29
- to stream Main, to step Merge: 001B57
- to stream Main, to step Curation: 001B46
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress</title><author><name sortKey="Yokota, Takuya" sort="Yokota, Takuya" uniqKey="Yokota T" first="Takuya" last="Yokota">Takuya Yokota</name></author><author><name sortKey="Matsumura, Yoshihiro" sort="Matsumura, Yoshihiro" uniqKey="Matsumura Y" first="Yoshihiro" last="Matsumura">Yoshihiro Matsumura</name></author><author><name sortKey="Ban, Nobuhiro" sort="Ban, Nobuhiro" uniqKey="Ban N" first="Nobuhiro" last="Ban">Nobuhiro Ban</name></author><author><name sortKey="Matsubayashi, Tadashi" sort="Matsubayashi, Tadashi" uniqKey="Matsubayashi T" first="Tadashi" last="Matsubayashi">Tadashi Matsubayashi</name></author><author><name sortKey="Inagaki, Nobuya" sort="Inagaki, Nobuya" uniqKey="Inagaki N" first="Nobuya" last="Inagaki">Nobuya Inagaki</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0A2854EACB592563F56C9623DE6EC2666BABFA39</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1007/s00431-007-0542-8</idno><idno type="url">https://api.istex.fr/ark:/67375/VQC-9467PKQ5-Q/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">000712</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000712</idno><idno type="wicri:Area/Istex/Curation">000712</idno><idno type="wicri:Area/Istex/Checkpoint">000A29</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000A29</idno><idno type="wicri:doubleKey">0340-6199:2007:Yokota T:heterozygous:abca:mutation</idno><idno type="wicri:Area/Main/Merge">001B57</idno><idno type="wicri:Area/Main/Curation">001B46</idno><idno type="wicri:Area/Main/Exploration">001B46</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress</title><author><name sortKey="Yokota, Takuya" sort="Yokota, Takuya" uniqKey="Yokota T" first="Takuya" last="Yokota">Takuya Yokota</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Seirei Hamamatsu General Hospital, 430-8558, Shizuoka</wicri:regionArea><wicri:noRegion>Shizuoka</wicri:noRegion></affiliation></author><author><name sortKey="Matsumura, Yoshihiro" sort="Matsumura, Yoshihiro" uniqKey="Matsumura Y" first="Yoshihiro" last="Matsumura">Yoshihiro Matsumura</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Physiology, Akita University School of Medicine, 010-8543, Akita</wicri:regionArea><wicri:noRegion>Akita</wicri:noRegion></affiliation></author><author><name sortKey="Ban, Nobuhiro" sort="Ban, Nobuhiro" uniqKey="Ban N" first="Nobuhiro" last="Ban">Nobuhiro Ban</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Physiology, Akita University School of Medicine, 010-8543, Akita</wicri:regionArea><wicri:noRegion>Akita</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Diabetes and Clinical Nutrition, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, 606-8507, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation></author><author><name sortKey="Matsubayashi, Tadashi" sort="Matsubayashi, Tadashi" uniqKey="Matsubayashi T" first="Tadashi" last="Matsubayashi">Tadashi Matsubayashi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Seirei Hamamatsu General Hospital, 430-8558, Shizuoka</wicri:regionArea><wicri:noRegion>Shizuoka</wicri:noRegion></affiliation></author><author><name sortKey="Inagaki, Nobuya" sort="Inagaki, Nobuya" uniqKey="Inagaki N" first="Nobuya" last="Inagaki">Nobuya Inagaki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Physiology, Akita University School of Medicine, 010-8543, Akita</wicri:regionArea><wicri:noRegion>Akita</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Diabetes and Clinical Nutrition, Graduate School of Medicine, Kyoto University, 54 Kawahara-cho, Shogoin, Sakyo-ku, 606-8507, Kyoto</wicri:regionArea><orgName type="university">Université de Kyoto</orgName><placeName><settlement type="city">Kyoto</settlement><region type="prefecture">Région du Kansai</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Japon</country></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Pediatrics</title><title level="j" type="abbrev">Eur J Pediatr</title><idno type="ISSN">0340-6199</idno><idno type="eISSN">1432-1076</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="2008-06-01">2008-06-01</date><biblScope unit="volume">167</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="691">691</biblScope><biblScope unit="page" to="693">693</biblScope></imprint><idno type="ISSN">0340-6199</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6199</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Fatal surfactant deficiency</term><term>Pediatric interstitial lung disease</term><term>Respiratory distress</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. BALF showed mature SP-B. Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.</div></front></TEI><affiliations><list><country><li>Japon</li></country><region><li>Région du Kansai</li></region><settlement><li>Kyoto</li></settlement><orgName><li>Université de Kyoto</li></orgName></list><tree><country name="Japon"><noRegion><name sortKey="Yokota, Takuya" sort="Yokota, Takuya" uniqKey="Yokota T" first="Takuya" last="Yokota">Takuya Yokota</name></noRegion><name sortKey="Ban, Nobuhiro" sort="Ban, Nobuhiro" uniqKey="Ban N" first="Nobuhiro" last="Ban">Nobuhiro Ban</name><name sortKey="Ban, Nobuhiro" sort="Ban, Nobuhiro" uniqKey="Ban N" first="Nobuhiro" last="Ban">Nobuhiro Ban</name><name sortKey="Inagaki, Nobuya" sort="Inagaki, Nobuya" uniqKey="Inagaki N" first="Nobuya" last="Inagaki">Nobuya Inagaki</name><name sortKey="Inagaki, Nobuya" sort="Inagaki, Nobuya" uniqKey="Inagaki N" first="Nobuya" last="Inagaki">Nobuya Inagaki</name><name sortKey="Inagaki, Nobuya" sort="Inagaki, Nobuya" uniqKey="Inagaki N" first="Nobuya" last="Inagaki">Nobuya Inagaki</name><name sortKey="Matsubayashi, Tadashi" sort="Matsubayashi, Tadashi" uniqKey="Matsubayashi T" first="Tadashi" last="Matsubayashi">Tadashi Matsubayashi</name><name sortKey="Matsumura, Yoshihiro" sort="Matsumura, Yoshihiro" uniqKey="Matsumura Y" first="Yoshihiro" last="Matsumura">Yoshihiro Matsumura</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001B46 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001B46 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Sante
|area= ChloroquineV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:0A2854EACB592563F56C9623DE6EC2666BABFA39
|texte= Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
}}
| This area was generated with Dilib version V0.6.33. |  |