Familial interstitial disease with I73T mutation: A mid- and long-term study.
Identifieur interne : 000118 ( Ncbi/Merge ); précédent : 000117; suivant : 000119Familial interstitial disease with I73T mutation: A mid- and long-term study.
Auteurs : Rola Abou Taam [France] ; Francis Jaubert ; Sophie Emond ; Muriel Le Bourgeois ; Ralph Epaud ; Chantal Karila ; Delphine Feldmann ; Pierre Scheinmann ; Jacques De BlicSource :
- Pediatric pulmonology [ 1099-0496 ] ; 2009.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Pneumopathies interstitielles.
- génétique : Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
- Adolescent, Adulte, Enfant d'âge préscolaire, Facteurs temps, Femelle, Humains, Mâle, Nourrisson, Pedigree, Âge de début.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Pulmonary Surfactant-Associated Protein C.
- genetics : Lung Diseases, Interstitial.
- pathology : Lung Diseases, Interstitial.
- Adolescent, Adult, Age of Onset, Child, Preschool, Female, Humans, Infant, Male, Pedigree, Time Factors.
Abstract
To describe the long-term course and the management in children of chronic interstitial lung disease associated with I73T mutation.
DOI: 10.1002/ppul.20970
PubMed: 19148933
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pubmed:19148933Le document en format XML
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uniqKey="Jaubert F" first="Francis" last="Jaubert">Francis Jaubert</name></author><author><name sortKey="Emond, Sophie" sort="Emond, Sophie" uniqKey="Emond S" first="Sophie" last="Emond">Sophie Emond</name></author><author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name></author><author><name sortKey="Karila, Chantal" sort="Karila, Chantal" uniqKey="Karila C" first="Chantal" last="Karila">Chantal Karila</name></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name></author><author><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name></author><author><name sortKey="De Blic, 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Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name><affiliation wicri:level="4"><nlm:affiliation>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France. rola.aboutaam@nck.aphp.fr</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Jaubert, Francis" sort="Jaubert, Francis" uniqKey="Jaubert F" first="Francis" last="Jaubert">Francis Jaubert</name></author><author><name sortKey="Emond, Sophie" sort="Emond, Sophie" uniqKey="Emond S" first="Sophie" last="Emond">Sophie Emond</name></author><author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name></author><author><name sortKey="Karila, Chantal" sort="Karila, Chantal" uniqKey="Karila C" first="Chantal" last="Karila">Chantal Karila</name></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name></author><author><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name></author><author><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name></author></analytic><series><title level="j">Pediatric pulmonology</title><idno type="eISSN">1099-0496</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Infant</term><term>Lung Diseases, Interstitial (genetics)</term><term>Lung Diseases, Interstitial (pathology)</term><term>Male</term><term>Pedigree</term><term>Pulmonary Surfactant-Associated Protein C (genetics)</term><term>Time Factors</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant d'âge préscolaire</term><term>Facteurs temps</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Pedigree</term><term>Pneumopathies interstitielles (anatomopathologie)</term><term>Pneumopathies interstitielles (génétique)</term><term>Protéine C associée au surfactant pulmonaire (génétique)</term><term>Âge de début</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Protéine C associée au surfactant pulmonaire</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Pedigree</term><term>Time Factors</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant d'âge préscolaire</term><term>Facteurs temps</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Pedigree</term><term>Âge de début</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To describe the long-term course and the management in children of chronic interstitial lung disease associated with I73T mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19148933</PMID><DateCompleted><Year>2009</Year><Month>06</Month><Day>23</Day></DateCompleted><DateRevised><Year>2009</Year><Month>01</Month><Day>28</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1099-0496</ISSN><JournalIssue CitedMedium="Internet"><Volume>44</Volume><Issue>2</Issue><PubDate><Year>2009</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Pediatric pulmonology</Title><ISOAbbreviation>Pediatr. Pulmonol.</ISOAbbreviation></Journal><ArticleTitle>Familial interstitial disease with I73T mutation: A mid- and long-term study.</ArticleTitle><Pagination><MedlinePgn>167-75</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ppul.20970</ELocationID><Abstract><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To describe the long-term course and the management in children of chronic interstitial lung disease associated with I73T mutation.</AbstractText><AbstractText Label="MATERIALS AND METHODS" NlmCategory="METHODS">Clinical, radiological, and histological data from one family including five children and two adults were analyzed retrospectively for three patients and prospectively for the others.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Mean age of onset of respiratory symptoms for children was 6 months (2-15 months). The follow up was 14 months to 15 years (mean 55 months). The children were treated by intravenous high dose methylprednisolone pulses (6-15, mean 12). Four received oral prednisolone (mean 16 months) and hydroxychloroquine, one of these had additional mycophenolate mofetil. One adult with mild respiratory symptoms in infancy and another who was symptom free were also diagnosed. Both of them received no treatment. BAL fluids were obtained in all children: pro-SPC and SPB were positive in all. Lung biopsies were performed in two children respectively at 7 months, showing interstitial pneumonia features with endoluminal macrophage and type II alveolar cells hyperplasia, and at 33 months, showing subpleural microbullae, areas of interstitial pneumonia and type II alveolar cells hyperplasia. Immunohistochemistry showed for both an increased SPB and TTF1 staining in type II cells nuclei and a faint staining for pro-SPC and for ABCA3. Genetic diagnosis obviated the need for biopsy in other cases. The clinical status progressively improved and oxygen supplementation could be stopped after 3-14 months (mean 9 months). The CT scans initially showed ground glass opacities, then reduction in the ground glass pattern associated with clinical improvement and development of cysts.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This kindred illustrates the variability of respiratory involvement and prognosis. It confirms the value of genetic screening for surfactant protein genes mutations.</AbstractText><CopyrightInformation>(c) 2009 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Abou Taam</LastName><ForeName>Rola</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades, Paris, France. rola.aboutaam@nck.aphp.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jaubert</LastName><ForeName>Francis</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Emond</LastName><ForeName>Sophie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Le Bourgeois</LastName><ForeName>Muriel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Epaud</LastName><ForeName>Ralph</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Karila</LastName><ForeName>Chantal</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Feldmann</LastName><ForeName>Delphine</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Scheinmann</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>de Blic</LastName><ForeName>Jacques</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Pediatr Pulmonol</MedlineTA><NlmUniqueID>8510590</NlmUniqueID><ISSNLinking>1099-0496</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489679">SFTPC protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D037721" MajorTopicYN="N">Pulmonary Surfactant-Associated Protein C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013997" MajorTopicYN="N">Time Factors</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>1</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>1</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>6</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19148933</ArticleId><ArticleId IdType="doi">10.1002/ppul.20970</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><noCountry><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><name sortKey="Emond, Sophie" sort="Emond, Sophie" uniqKey="Emond S" first="Sophie" last="Emond">Sophie Emond</name><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><name sortKey="Jaubert, Francis" sort="Jaubert, Francis" uniqKey="Jaubert F" first="Francis" last="Jaubert">Francis Jaubert</name><name sortKey="Karila, Chantal" sort="Karila, Chantal" uniqKey="Karila C" first="Chantal" last="Karila">Chantal Karila</name><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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