Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study
Identifieur interne : 000024 ( PascalFrancis/Checkpoint ); précédent : 000023; suivant : 000025Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study
Auteurs : Rola Abou Taam [France] ; Francis Jaubert [France] ; Sophie Emond [France] ; Muriel Le Bourgeois [France] ; Ralph Epaud [France] ; Chantal Karila [France] ; Delphine Feldmann [France] ; Pierre Scheinmann [France] ; Jacques De Blic [France]Source :
- Pediatric pulmonology [ 8755-6863 ] ; 2009.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
Objectives: To describe the long-term course and the management in children of chronic interstitial lung disease associated with 173T mutation. Materials and 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. 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. Conclusion: This kindred illustrates the variability of respiratory involvement and prognosis. It confirms the value of genetic screening for surfactant protein genes mutations.
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
Pascal:09-0073490Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study</title><author><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Jaubert, Francis" sort="Jaubert, Francis" uniqKey="Jaubert F" first="Francis" last="Jaubert">Francis Jaubert</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service d'Anatomopathologie, Centre de Référence des Maladies Respiratoires Rares, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Emond, Sophie" sort="Emond, Sophie" uniqKey="Emond S" first="Sophie" last="Emond">Sophie Emond</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Service de Radiologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Service de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Karila, Chantal" sort="Karila, Chantal" uniqKey="Karila C" first="Chantal" last="Karila">Chantal Karila</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Laboratoire de Biochimie, Hôpital Armand Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0073490</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0073490 INIST</idno><idno type="RBID">Pascal:09-0073490</idno><idno type="wicri:Area/PascalFrancis/Corpus">000026</idno><idno type="wicri:Area/PascalFrancis/Curation">000040</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000024</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000024</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study</title><author><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Jaubert, Francis" sort="Jaubert, Francis" uniqKey="Jaubert F" first="Francis" last="Jaubert">Francis Jaubert</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Service d'Anatomopathologie, Centre de Référence des Maladies Respiratoires Rares, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Emond, Sophie" sort="Emond, Sophie" uniqKey="Emond S" first="Sophie" last="Emond">Sophie Emond</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Service de Radiologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Service de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Karila, Chantal" sort="Karila, Chantal" uniqKey="Karila C" first="Chantal" last="Karila">Chantal Karila</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Laboratoire de Biochimie, Hôpital Armand Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><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><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Pediatric pulmonology</title><title level="j" type="abbreviated">Pediatr. pulmonol.</title><idno type="ISSN">8755-6863</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Pediatric pulmonology</title><title level="j" type="abbreviated">Pediatr. pulmonol.</title><idno type="ISSN">8755-6863</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Corticosteroid</term><term>Familial disease</term><term>Fibrosis</term><term>Gene</term><term>Interstitial</term><term>Interstitial pneumonitis</term><term>Long term</term><term>Mutation</term><term>Pediatrics</term><term>Pneumology</term><term>Protein C</term><term>Pulmonary hypertension</term><term>Pulmonary surfactant</term><term>Surfactant</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie familiale</term><term>Pneumopathie interstitielle</term><term>Hypertension artérielle pulmonaire</term><term>Interstitiel</term><term>Mutation</term><term>Long terme</term><term>Enfant</term><term>Surfactant pulmonaire</term><term>Agent surface</term><term>Protéine C</term><term>Gène</term><term>Corticostéroïde</term><term>Fibrose</term><term>Pédiatrie</term><term>Pneumologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term><term>Pédiatrie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objectives: To describe the long-term course and the management in children of chronic interstitial lung disease associated with 173T mutation. Materials and 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. 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. Conclusion: This kindred illustrates the variability of respiratory involvement and prognosis. It confirms the value of genetic screening for surfactant protein genes mutations.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>8755-6863</s0></fA01><fA02 i1="01"><s0>PEPUES</s0></fA02><fA03 i2="1"><s0>Pediatr. pulmonol.</s0></fA03><fA05><s2>44</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study</s1></fA08><fA11 i1="01" i2="1"><s1>ABOU TAAM (Rola)</s1></fA11><fA11 i1="02" i2="1"><s1>JAUBERT (Francis)</s1></fA11><fA11 i1="03" i2="1"><s1>EMOND (Sophie)</s1></fA11><fA11 i1="04" i2="1"><s1>LE BOURGEOIS (Muriel)</s1></fA11><fA11 i1="05" i2="1"><s1>EPAUD (Ralph)</s1></fA11><fA11 i1="06" i2="1"><s1>KARILA (Chantal)</s1></fA11><fA11 i1="07" i2="1"><s1>FELDMANN (Delphine)</s1></fA11><fA11 i1="08" i2="1"><s1>SCHEINMANN (Pierre)</s1></fA11><fA11 i1="09" i2="1"><s1>DE BLIC (Jacques)</s1></fA11><fA14 i1="01"><s1>Université Paris Descartes, Assistance Publique des Hôpitaux de Paris, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="02"><s1>Service de Pneumologie et d'Allergologie Pédiatriques, Centre de Référence des Maladies Respiratoires Rares</s1><s2>Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="03"><s1>Service d'Anatomopathologie, Centre de Référence des Maladies Respiratoires Rares, Hôpital Necker Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="04"><s1>Service de Radiologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="05"><s1>Service de Pneumologie Pédiatrique, Centre de Référence des Maladies Respiratoires Rares, Hôpital Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>5 aut.</sZ></fA14><fA14 i1="06"><s1>Laboratoire de Biochimie, Hôpital Armand Trousseau</s1><s2>Paris</s2><s3>FRA</s3><sZ>7 aut.</sZ></fA14><fA20><s1>167-175</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>21407</s2><s5>354000184119190100</s5></fA43><fA44><s0>0000</s0><s1>© 2009 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>28 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>09-0073490</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Pediatric pulmonology</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Objectives: To describe the long-term course and the management in children of chronic interstitial lung disease associated with 173T mutation. Materials and 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. 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. Conclusion: This kindred illustrates the variability of respiratory involvement and prognosis. It confirms the value of genetic screening for surfactant protein genes mutations.</s0></fC01><fC02 i1="01" i2="X"><s0>002B11D</s0></fC02><fC02 i1="02" i2="X"><s0>002B01</s0></fC02><fC02 i1="03" i2="X"><s0>002B02L</s0></fC02><fC02 i1="04" i2="X"><s0>002B11C</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Maladie familiale</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Familial disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Enfermedad familiar</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pneumopathie interstitielle</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Interstitial pneumonitis</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Neumopatía intersticial</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Hypertension artérielle pulmonaire</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Pulmonary hypertension</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Hipertensión arterial pulmonar</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Interstitiel</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Interstitial</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Intersticial</s0><s5>09</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Mutation</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Mutación</s0><s5>10</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Long terme</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Long term</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Largo plazo</s0><s5>11</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Enfant</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Child</s0><s5>12</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Niño</s0><s5>12</s5></fC03><fC03 i1="08" i2="X" l="FRE"><s0>Surfactant pulmonaire</s0><s5>13</s5></fC03><fC03 i1="08" i2="X" l="ENG"><s0>Pulmonary surfactant</s0><s5>13</s5></fC03><fC03 i1="08" i2="X" l="SPA"><s0>Surfactante pulmonar</s0><s5>13</s5></fC03><fC03 i1="09" i2="X" l="FRE"><s0>Agent surface</s0><s2>FX</s2><s5>14</s5></fC03><fC03 i1="09" i2="X" l="ENG"><s0>Surfactant</s0><s2>FX</s2><s5>14</s5></fC03><fC03 i1="09" i2="X" l="SPA"><s0>Agente superficie</s0><s2>FX</s2><s5>14</s5></fC03><fC03 i1="10" i2="X" l="FRE"><s0>Protéine C</s0><s5>15</s5></fC03><fC03 i1="10" i2="X" l="ENG"><s0>Protein C</s0><s5>15</s5></fC03><fC03 i1="10" i2="X" l="SPA"><s0>Proteína C</s0><s5>15</s5></fC03><fC03 i1="11" i2="X" l="FRE"><s0>Gène</s0><s5>16</s5></fC03><fC03 i1="11" i2="X" l="ENG"><s0>Gene</s0><s5>16</s5></fC03><fC03 i1="11" i2="X" l="SPA"><s0>Gen</s0><s5>16</s5></fC03><fC03 i1="12" i2="X" l="FRE"><s0>Corticostéroïde</s0><s5>17</s5></fC03><fC03 i1="12" i2="X" l="ENG"><s0>Corticosteroid</s0><s5>17</s5></fC03><fC03 i1="12" i2="X" l="SPA"><s0>Corticoesteroide</s0><s5>17</s5></fC03><fC03 i1="13" i2="X" l="FRE"><s0>Fibrose</s0><s5>18</s5></fC03><fC03 i1="13" i2="X" l="ENG"><s0>Fibrosis</s0><s5>18</s5></fC03><fC03 i1="13" i2="X" l="SPA"><s0>Fibrosis</s0><s5>18</s5></fC03><fC03 i1="14" i2="X" l="FRE"><s0>Pédiatrie</s0><s5>19</s5></fC03><fC03 i1="14" i2="X" l="ENG"><s0>Pediatrics</s0><s5>19</s5></fC03><fC03 i1="14" i2="X" l="SPA"><s0>Pediatría</s0><s5>19</s5></fC03><fC03 i1="15" i2="X" l="FRE"><s0>Pneumologie</s0><s5>20</s5></fC03><fC03 i1="15" i2="X" l="ENG"><s0>Pneumology</s0><s5>20</s5></fC03><fC03 i1="15" i2="X" l="SPA"><s0>Neumología</s0><s5>20</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Human</s0></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Pathologie de l'appareil respiratoire</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Respiratory disease</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Aparato respiratorio patología</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie des poumons</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Lung disease</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Pulmón patología</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie de l'appareil circulatoire</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Cardiovascular disease</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0><s5>39</s5></fC07><fN21><s1>054</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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><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><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><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="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="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="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="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><name sortKey="Scheinmann, Pierre" sort="Scheinmann, Pierre" uniqKey="Scheinmann P" first="Pierre" last="Scheinmann">Pierre Scheinmann</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Sante/explor/ChloroquineV1/Data/PascalFrancis/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000024 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 000024 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Sante
|area= ChloroquineV1
|flux= PascalFrancis
|étape= Checkpoint
|type= RBID
|clé= Pascal:09-0073490
|texte= Familial Interstitial Disease With 173T Mutation : A Mid-and Long-Term Study
}}
| This area was generated with Dilib version V0.6.33. |  |