ChloroquineV1, PascalFrancis, Corpus, bibRecord, 000020

Characteristics of disorders associated with genetic mutations of surfactant protein C

Identifieur interne : 000020 ( PascalFrancis/Corpus ); précédent : 000019; suivant : 000021

Characteristics of disorders associated with genetic mutations of surfactant protein C

Auteurs : Guillaume Thouvenin ; Rola Abou Taam ; Florence Flamein ; Loïc Guillot ; Muriel Le Bourgeois ; Philippe Reix ; Mickael Fayon ; François Counil ; Ulrika Depontbriand ; Delphine Feldmann ; Hubert Ducou-Le Pointe ; Jacques De Blic ; Annick Clement ; Ralph Epaud

Source :

Archives of disease in childhood [ 0003-9888 ] ; 2010.

RBID : Pascal:10-0279843

Descripteurs français

Pascal (Inist)
- Coagulopathie, Caractéristiques, Association, Génétique, Surfactant pulmonaire, Agent surface, Santé publique, Pédiatrie, Enfant.

English descriptors

KwdEn :
- Association, Characteristics, Child, Coagulopathy, Genetics, Pediatrics, Public health, Pulmonary surfactant, Surfactant.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A02	`01`			`@0 ADCHAK`
A03		`1`		`@0 Arch. dis. child.`
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A08	`01`	`1`	`ENG`	`@1 Characteristics of disorders associated with genetic mutations of surfactant protein C`
A11	`01`	`1`		`@1 THOUVENIN (Guillaume)`
A11	`02`	`1`		`@1 ABOU TAAM (Rola)`
A11	`03`	`1`		`@1 FLAMEIN (Florence)`
A11	`04`	`1`		`@1 GUILLOT (Loïc)`
A11	`05`	`1`		`@1 LE BOURGEOIS (Muriel)`
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A11	`14`	`1`		`@1 EPAUD (Ralph)`
A14	`01`			`@1 INSERM UMR_S U938 @2 Paris @3 FRA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 13 aut. @Z 14 aut.`
A14	`02`			`@1 UPMC Université Paris 06 @2 Paris @3 FRA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 13 aut. @Z 14 aut.`
A14	`03`			`@1 AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau @2 Paris @3 FRA @Z 1 aut. @Z 13 aut. @Z 14 aut.`
A14	`04`			`@1 Université Paris Descartes @2 Paris @3 FRA @Z 2 aut. @Z 5 aut. @Z 12 aut.`
A14	`05`			`@1 AP-HP, Pediatric Pneumology-Allergology Department, Hôpital Necker Enfants Malades @2 Paris @3 FRA @Z 2 aut. @Z 5 aut. @Z 12 aut.`
A14	`06`			`@1 Pediatric Pneumology-Allergology Department, Groupement Hospitalier Est @2 Lyon @3 FRA @Z 6 aut.`
A14	`07`			`@1 Pediatric Department, Hopital Pellegrin-Enfants @2 Bordeaux @3 FRA @Z 7 aut.`
A14	`08`			`@1 Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier @2 Montpellier @3 FRA @Z 8 aut.`
A14	`09`			`@1 Hôpital mere-enfant, Centre Hospitalier Universitaire de Nantes @2 Nantes @3 FRA @Z 9 aut.`
A14	`10`			`@1 AP-HP, Biochemistry Department, Hôpital Armand Trousseau @2 Paris @3 FRA @Z 10 aut.`
A14	`11`			`@1 AP-HP, Radiology Department, Hôpital Armand Trousseau @2 Paris @3 FRA @Z 11 aut.`
A20				`@1 449-454`
A21				`@1 2010`
A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 Archives of disease in childhood`
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C01	`01`		`ENG`	@0 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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Format Inist (serveur)

NO :	PASCAL 10-0279843 INIST
ET :	Characteristics of disorders associated with genetic mutations of surfactant protein C
AU :	THOUVENIN (Guillaume); ABOU TAAM (Rola); FLAMEIN (Florence); GUILLOT (Loïc); LE BOURGEOIS (Muriel); REIX (Philippe); FAYON (Mickael); COUNIL (François); DEPONTBRIAND (Ulrika); FELDMANN (Delphine); DUCOU-LE POINTE (Hubert); DE BLIC (Jacques); CLEMENT (Annick); EPAUD (Ralph)
AF :	INSERM UMR_S U938/Paris/France (1 aut., 3 aut., 4 aut., 13 aut., 14 aut.); UPMC Université Paris 06/Paris/France (1 aut., 3 aut., 4 aut., 13 aut., 14 aut.); AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau/Paris/France (1 aut., 13 aut., 14 aut.); Université Paris Descartes/Paris/France (2 aut., 5 aut., 12 aut.); AP-HP, Pediatric Pneumology-Allergology Department, Hôpital Necker Enfants Malades/Paris/France (2 aut., 5 aut., 12 aut.); Pediatric Pneumology-Allergology Department, Groupement Hospitalier Est/Lyon/France (6 aut.); Pediatric Department, Hopital Pellegrin-Enfants/Bordeaux/France (7 aut.); Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier/Montpellier/France (8 aut.); Hôpital mere-enfant, Centre Hospitalier Universitaire de Nantes/Nantes/France (9 aut.); AP-HP, Biochemistry Department, Hôpital Armand Trousseau/Paris/France (10 aut.); AP-HP, Radiology Department, Hôpital Armand Trousseau/Paris/France (11 aut.)
DT :	Publication en série; Niveau analytique
SO :	Archives of disease in childhood; ISSN 0003-9888; Coden ADCHAK; Royaume-Uni; Da. 2010; Vol. 95; No. 6; Pp. 449-454; Bibl. 39 ref.
LA :	Anglais
EA :	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.
CC :	002B30A03C; 002B01; 002B19C
FD :	Coagulopathie; Caractéristiques; Association; Génétique; Surfactant pulmonaire; Agent surface; Santé publique; Pédiatrie; Enfant
FG :	Homme; Hémopathie
ED :	Coagulopathy; Characteristics; Association; Genetics; Pulmonary surfactant; Surfactant; Public health; Pediatrics; Child
EG :	Human; Hemopathy
SD :	Coagulopatía; Características; Asociación; Genética; Surfactante pulmonar; Agente superficie; Salud pública; Pediatría; Niño
LO :	INIST-2035.354000193021090090
ID :	10-0279843

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Pascal:10-0279843

Le document en format XML

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<author><name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name>
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<author><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name>
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<author><name sortKey="Reix, Philippe" sort="Reix, Philippe" uniqKey="Reix P" first="Philippe" last="Reix">Philippe Reix</name>
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<author><name sortKey="Fayon, Mickael" sort="Fayon, Mickael" uniqKey="Fayon M" first="Mickael" last="Fayon">Mickael Fayon</name>
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<author><name sortKey="Counil, Francois" sort="Counil, Francois" uniqKey="Counil F" first="François" last="Counil">François Counil</name>
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<author><name sortKey="Depontbriand, Ulrika" sort="Depontbriand, Ulrika" uniqKey="Depontbriand U" first="Ulrika" last="Depontbriand">Ulrika Depontbriand</name>
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<author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name>
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<author><name sortKey="Ducou Le Pointe, Hubert" sort="Ducou Le Pointe, Hubert" uniqKey="Ducou Le Pointe H" first="Hubert" last="Ducou-Le Pointe">Hubert Ducou-Le Pointe</name>
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<author><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name>
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<author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM UMR_S U938</s1>
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<affiliation><inist:fA14 i1="02"><s1>UPMC Université Paris 06</s1>
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<affiliation><inist:fA14 i1="03"><s1>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau</s1>
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<author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM UMR_S U938</s1>
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<affiliation><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>
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<date when="2010">2010</date>
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<idno type="RBID">Pascal:10-0279843</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000020</idno>
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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>
<author><name sortKey="Thouvenin, Guillaume" sort="Thouvenin, Guillaume" uniqKey="Thouvenin G" first="Guillaume" last="Thouvenin">Guillaume Thouvenin</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau</s1>
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<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name>
<affiliation><inist: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>
</inist:fA14>
</affiliation>
<affiliation><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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Flamein, Florence" sort="Flamein, Florence" uniqKey="Flamein F" first="Florence" last="Flamein">Florence Flamein</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</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><inist: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>
</inist:fA14>
</affiliation>
<affiliation><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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Reix, Philippe" sort="Reix, Philippe" uniqKey="Reix P" first="Philippe" last="Reix">Philippe Reix</name>
<affiliation><inist:fA14 i1="06"><s1>Pediatric Pneumology-Allergology Department, Groupement Hospitalier Est</s1>
<s2>Lyon</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Fayon, Mickael" sort="Fayon, Mickael" uniqKey="Fayon M" first="Mickael" last="Fayon">Mickael Fayon</name>
<affiliation><inist:fA14 i1="07"><s1>Pediatric Department, Hopital Pellegrin-Enfants</s1>
<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Counil, Francois" sort="Counil, Francois" uniqKey="Counil F" first="François" last="Counil">François Counil</name>
<affiliation><inist:fA14 i1="08"><s1>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Depontbriand, Ulrika" sort="Depontbriand, Ulrika" uniqKey="Depontbriand U" first="Ulrika" last="Depontbriand">Ulrika Depontbriand</name>
<affiliation><inist:fA14 i1="09"><s1>Hôpital mere-enfant, Centre Hospitalier Universitaire de Nantes</s1>
<s2>Nantes</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name>
<affiliation><inist:fA14 i1="10"><s1>AP-HP, Biochemistry Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ducou Le Pointe, Hubert" sort="Ducou Le Pointe, Hubert" uniqKey="Ducou Le Pointe H" first="Hubert" last="Ducou-Le Pointe">Hubert Ducou-Le Pointe</name>
<affiliation><inist:fA14 i1="11"><s1>AP-HP, Radiology Department, Hôpital Armand Trousseau</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</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><inist: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>
</inist:fA14>
</affiliation>
<affiliation><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>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><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>
</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>
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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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</fA05>
<fA06><s2>6</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Characteristics of disorders associated with genetic mutations of surfactant protein C</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>THOUVENIN (Guillaume)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>ABOU TAAM (Rola)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>FLAMEIN (Florence)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GUILLOT (Loïc)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>LE BOURGEOIS (Muriel)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>REIX (Philippe)</s1>
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<fA11 i1="07" i2="1"><s1>FAYON (Mickael)</s1>
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<fA11 i1="08" i2="1"><s1>COUNIL (François)</s1>
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<fA11 i1="09" i2="1"><s1>DEPONTBRIAND (Ulrika)</s1>
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<fA11 i1="10" i2="1"><s1>FELDMANN (Delphine)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>DUCOU-LE POINTE (Hubert)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>DE BLIC (Jacques)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>CLEMENT (Annick)</s1>
</fA11>
<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>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<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>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</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>
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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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<s5>06</s5>
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<s5>08</s5>
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<s5>08</s5>
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<s5>25</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Child</s0>
<s5>25</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Niño</s0>
<s5>25</s5>
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<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
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<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
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<fC07 i1="02" i2="X" l="FRE"><s0>Hémopathie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Hemopathy</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Hemopatía</s0>
<s5>37</s5>
</fC07>
<fN21><s1>181</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
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<server><NO>PASCAL 10-0279843 INIST</NO>
<ET>Characteristics of disorders associated with genetic mutations of surfactant protein C</ET>
<AU>THOUVENIN (Guillaume); ABOU TAAM (Rola); FLAMEIN (Florence); GUILLOT (Loïc); LE BOURGEOIS (Muriel); REIX (Philippe); FAYON (Mickael); COUNIL (François); DEPONTBRIAND (Ulrika); FELDMANN (Delphine); DUCOU-LE POINTE (Hubert); DE BLIC (Jacques); CLEMENT (Annick); EPAUD (Ralph)</AU>
<AF>INSERM UMR_S U938/Paris/France (1 aut., 3 aut., 4 aut., 13 aut., 14 aut.); UPMC Université Paris 06/Paris/France (1 aut., 3 aut., 4 aut., 13 aut., 14 aut.); AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau/Paris/France (1 aut., 13 aut., 14 aut.); Université Paris Descartes/Paris/France (2 aut., 5 aut., 12 aut.); AP-HP, Pediatric Pneumology-Allergology Department, Hôpital Necker Enfants Malades/Paris/France (2 aut., 5 aut., 12 aut.); Pediatric Pneumology-Allergology Department, Groupement Hospitalier Est/Lyon/France (6 aut.); Pediatric Department, Hopital Pellegrin-Enfants/Bordeaux/France (7 aut.); Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier/Montpellier/France (8 aut.); Hôpital mere-enfant, Centre Hospitalier Universitaire de Nantes/Nantes/France (9 aut.); AP-HP, Biochemistry Department, Hôpital Armand Trousseau/Paris/France (10 aut.); AP-HP, Radiology Department, Hôpital Armand Trousseau/Paris/France (11 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Archives of disease in childhood; ISSN 0003-9888; Coden ADCHAK; Royaume-Uni; Da. 2010; Vol. 95; No. 6; Pp. 449-454; Bibl. 39 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B30A03C; 002B01; 002B19C</CC>
<FD>Coagulopathie; Caractéristiques; Association; Génétique; Surfactant pulmonaire; Agent surface; Santé publique; Pédiatrie; Enfant</FD>
<FG>Homme; Hémopathie</FG>
<ED>Coagulopathy; Characteristics; Association; Genetics; Pulmonary surfactant; Surfactant; Public health; Pediatrics; Child</ED>
<EG>Human; Hemopathy</EG>
<SD>Coagulopatía; Características; Asociación; Genética; Surfactante pulmonar; Agente superficie; Salud pública; Pediatría; Niño</SD>
<LO>INIST-2035.354000193021090090</LO>
<ID>10-0279843</ID>
</server>
</inist>
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Characteristics of disorders associated with genetic mutations of surfactant protein C

Characteristics of disorders associated with genetic mutations of surfactant protein C

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