Characteristics of disorders associated with genetic mutations of surfactant protein C
Identifieur interne : 000046 ( PascalFrancis/Curation ); précédent : 000045; suivant : 000047Characteristics of disorders associated with genetic mutations of surfactant protein C
Auteurs : Guillaume Thouvenin [France] ; Rola Abou Taam [France] ; Florence Flamein [France] ; Loïc Guillot [France] ; Muriel Le Bourgeois [France] ; Philippe Reix [France] ; Mickael Fayon [France] ; François Counil [France] ; Ulrika Depontbriand [France] ; Delphine Feldmann [France] ; Hubert Ducou-Le Pointe [France] ; Jacques De Blic [France] ; Annick Clement [France] ; Ralph Epaud [France]Source :
- Archives of disease in childhood [ 0003-9888 ] ; 2010.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Association, Génétique, Santé publique, Pédiatrie, Enfant.
English descriptors
- KwdEn :
Abstract
Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. Results Mutations located in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain ('non-BRICHOS domain' group). The median age of onset was 3 (0-24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×103 cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1-18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/ or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Characteristics of disorders associated with genetic mutations of surfactant protein C</title>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>AP-HP, Pediatric Pneumology-Allergology Department, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>France</country>
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<author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM UMR_S U938</s1>
<s2>Paris</s2>
<s3>FRA</s3>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UPMC Université Paris 06</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM UMR_S U938</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UPMC Université Paris 06</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Archives of disease in childhood</title>
<title level="j" type="abbreviated">Arch. dis. child.</title>
<idno type="ISSN">0003-9888</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Archives of disease in childhood</title>
<title level="j" type="abbreviated">Arch. dis. child.</title>
<idno type="ISSN">0003-9888</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Characteristics</term>
<term>Child</term>
<term>Coagulopathy</term>
<term>Genetics</term>
<term>Pediatrics</term>
<term>Public health</term>
<term>Pulmonary surfactant</term>
<term>Surfactant</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Coagulopathie</term>
<term>Caractéristiques</term>
<term>Association</term>
<term>Génétique</term>
<term>Surfactant pulmonaire</term>
<term>Agent surface</term>
<term>Santé publique</term>
<term>Pédiatrie</term>
<term>Enfant</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term>
<term>Génétique</term>
<term>Santé publique</term>
<term>Pédiatrie</term>
<term>Enfant</term>
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<front><div type="abstract" xml:lang="en">Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. Results Mutations located in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain ('non-BRICHOS domain' group). The median age of onset was 3 (0-24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×10<sup>3</sup>
cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1-18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/ or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.</div>
</front>
</TEI>
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<fA08 i1="01" i2="1" l="ENG"><s1>Characteristics of disorders associated with genetic mutations of surfactant protein C</s1>
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<fA11 i1="01" i2="1"><s1>THOUVENIN (Guillaume)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>ABOU TAAM (Rola)</s1>
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<fA11 i1="14" i2="1"><s1>EPAUD (Ralph)</s1>
</fA11>
<fA14 i1="01"><s1>INSERM UMR_S U938</s1>
<s2>Paris</s2>
<s3>FRA</s3>
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<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>UPMC Université Paris 06</s1>
<s2>Paris</s2>
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<sZ>4 aut.</sZ>
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</fA14>
<fA14 i1="03"><s1>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Université Paris Descartes</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>AP-HP, Pediatric Pneumology-Allergology Department, Hôpital Necker Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Pediatric Pneumology-Allergology Department, Groupement Hospitalier Est</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Pediatric Department, Hopital Pellegrin-Enfants</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Hôpital mere-enfant, Centre Hospitalier Universitaire de Nantes</s1>
<s2>Nantes</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>AP-HP, Biochemistry Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="11"><s1>AP-HP, Radiology Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA20><s1>449-454</s1>
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<fC01 i1="01" l="ENG"><s0>Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form. Results Mutations located in the BRICHOS domain ('BRICHOS domain' group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain ('non-BRICHOS domain' group). The median age of onset was 3 (0-24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×10<sup>3</sup>
cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1-18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/ or azithromycin (n=4). Fifteen patients benefited from enteral nutrition. Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.</s0>
</fC01>
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