Characteristics of disorders associated with genetic mutations of surfactant protein C
Identifieur interne : 001537 ( Istex/Corpus ); précédent : 001536; suivant : 001538Characteristics 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 EpaudSource :
- Archives of Disease in Childhood [ 0003-9888 ] ; 2010-06.
English descriptors
- Teeft :
- Acute bronchiolitis, Adenomatoid malformation, Alveolar type, Armand trousseau, Azithromycin, Balf, Balf analysis, Biol, Brichos, Brichos domain, Brichos domain group, Bril formation, Bronchoalveolar, Bronchoalveolar lavage, Centre hospitalier universitaire, Clinical presentation, Common mutation, Constant ndings, Control scan, Different treatments, Diffuse lung disease, Domain, Domain brichos domain, Domain group, Enteral nutrition, Exercise intolerance, Gastrointestinal symptoms, General anaesthesia, Genetic mutations, Hrct, Hrct scan, Hydroxychloroquine, Interstitial lung disease, Lung biopsy, Lung disease, Lung disorders, Lung surfactant protein, Methylprednisolone, Methylprednisolone pulse, Mutation, Mutation status, Ndings, Neutrophil percentage, Nogee, Nonbrichos domain, Nutritional support, Oral steroids, Oxygen saturation, Patients patients, Physical examination, Physiol, Physiol lung cell, Present study, Radiological features, Recombinant antihuman, Respir, Respir cell, Respir crit care, Respiratory distress, Respiratory symptoms, Sftpc, Sftpc disorders, Sftpc mutation, Sftpc mutations, Sporadic cases, Steroid, Supplemental oxygen, Surfactant, Surfactant homeostasis, Surfactant protein, Surfactant proteins, Symptom onset, Tachypnoea, Treatment modalities, Viral infection, Viral infection prophylaxis, Western blot analysis.
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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DOI: 10.1136/adc.2009.171553
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sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><affiliation><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9FAD17A85849C5EF44A5232B0F25376E4361956E</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1136/adc.2009.171553</idno><idno type="url">https://api.istex.fr/ark:/67375/NVC-XX0WXSQG-2/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">001537</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001537</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Taam, Rola Abou" sort="Taam, Rola Abou" uniqKey="Taam R" first="Rola Abou" last="Taam">Rola Abou Taam</name><affiliation><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Flamein, Florence" sort="Flamein, Florence" uniqKey="Flamein F" first="Florence" last="Flamein">Florence Flamein</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></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><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Reix, Philippe" sort="Reix, Philippe" uniqKey="Reix P" first="Philippe" last="Reix">Philippe Reix</name><affiliation><mods:affiliation>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</mods:affiliation></affiliation></author><author><name sortKey="Fayon, Mickael" sort="Fayon, Mickael" uniqKey="Fayon M" first="Mickael" last="Fayon">Mickael Fayon</name><affiliation><mods:affiliation>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Counil, Francois" sort="Counil, Francois" uniqKey="Counil F" first="François" last="Counil">François Counil</name><affiliation><mods:affiliation>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Depontbriand, Ulrika" sort="Depontbriand, Ulrika" uniqKey="Depontbriand U" first="Ulrika" last="Depontbriand">Ulrika Depontbriand</name><affiliation><mods:affiliation>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</mods:affiliation></affiliation></author><author><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><affiliation><mods:affiliation>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Pointe, Hubert Ducou Le" sort="Pointe, Hubert Ducou Le" uniqKey="Pointe H" first="Hubert Ducou-Le" last="Pointe">Hubert Ducou-Le Pointe</name><affiliation><mods:affiliation>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></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><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><affiliation><mods:affiliation>INSERM UMR_S U938, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>UPMC Université Paris 06, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="ISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2010-06">2010-06</date><biblScope unit="volume">95</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="449">449</biblScope></imprint><idno type="ISSN">0003-9888</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0003-9888</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acute bronchiolitis</term><term>Adenomatoid malformation</term><term>Alveolar type</term><term>Armand trousseau</term><term>Azithromycin</term><term>Balf</term><term>Balf analysis</term><term>Biol</term><term>Brichos</term><term>Brichos domain</term><term>Brichos domain group</term><term>Bril formation</term><term>Bronchoalveolar</term><term>Bronchoalveolar lavage</term><term>Centre hospitalier universitaire</term><term>Clinical presentation</term><term>Common mutation</term><term>Constant ndings</term><term>Control scan</term><term>Different treatments</term><term>Diffuse lung disease</term><term>Domain</term><term>Domain brichos domain</term><term>Domain group</term><term>Enteral nutrition</term><term>Exercise intolerance</term><term>Gastrointestinal symptoms</term><term>General anaesthesia</term><term>Genetic mutations</term><term>Hrct</term><term>Hrct scan</term><term>Hydroxychloroquine</term><term>Interstitial lung disease</term><term>Lung biopsy</term><term>Lung disease</term><term>Lung disorders</term><term>Lung surfactant protein</term><term>Methylprednisolone</term><term>Methylprednisolone pulse</term><term>Mutation</term><term>Mutation status</term><term>Ndings</term><term>Neutrophil percentage</term><term>Nogee</term><term>Nonbrichos domain</term><term>Nutritional support</term><term>Oral steroids</term><term>Oxygen saturation</term><term>Patients patients</term><term>Physical examination</term><term>Physiol</term><term>Physiol lung cell</term><term>Present study</term><term>Radiological features</term><term>Recombinant antihuman</term><term>Respir</term><term>Respir cell</term><term>Respir crit care</term><term>Respiratory distress</term><term>Respiratory symptoms</term><term>Sftpc</term><term>Sftpc disorders</term><term>Sftpc mutation</term><term>Sftpc mutations</term><term>Sporadic cases</term><term>Steroid</term><term>Supplemental oxygen</term><term>Surfactant</term><term>Surfactant homeostasis</term><term>Surfactant protein</term><term>Surfactant proteins</term><term>Symptom onset</term><term>Tachypnoea</term><term>Treatment modalities</term><term>Viral infection</term><term>Viral infection prophylaxis</term><term>Western blot analysis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="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.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>sftpc</json:string><json:string>surfactant protein</json:string><json:string>brichos</json:string><json:string>balf</json:string><json:string>surfactant</json:string><json:string>sftpc mutation</json:string><json:string>sftpc mutations</json:string><json:string>respir</json:string><json:string>brichos domain</json:string><json:string>methylprednisolone</json:string><json:string>nogee</json:string><json:string>hydroxychloroquine</json:string><json:string>tachypnoea</json:string><json:string>azithromycin</json:string><json:string>hrct</json:string><json:string>mutation status</json:string><json:string>biol</json:string><json:string>bronchoalveolar</json:string><json:string>ndings</json:string><json:string>lung disease</json:string><json:string>physiol</json:string><json:string>methylprednisolone pulse</json:string><json:string>steroid</json:string><json:string>western blot analysis</json:string><json:string>respir crit care</json:string><json:string>interstitial lung disease</json:string><json:string>bronchoalveolar lavage</json:string><json:string>balf analysis</json:string><json:string>armand trousseau</json:string><json:string>diffuse lung disease</json:string><json:string>acute bronchiolitis</json:string><json:string>alveolar type</json:string><json:string>physical examination</json:string><json:string>hrct scan</json:string><json:string>surfactant homeostasis</json:string><json:string>enteral nutrition</json:string><json:string>clinical presentation</json:string><json:string>lung biopsy</json:string><json:string>recombinant antihuman</json:string><json:string>sporadic cases</json:string><json:string>sftpc disorders</json:string><json:string>symptom onset</json:string><json:string>control scan</json:string><json:string>adenomatoid malformation</json:string><json:string>surfactant proteins</json:string><json:string>treatment modalities</json:string><json:string>respir cell</json:string><json:string>oral steroids</json:string><json:string>general anaesthesia</json:string><json:string>patients patients</json:string><json:string>domain brichos domain</json:string><json:string>nonbrichos domain</json:string><json:string>domain group</json:string><json:string>brichos domain group</json:string><json:string>supplemental oxygen</json:string><json:string>exercise intolerance</json:string><json:string>different treatments</json:string><json:string>respiratory symptoms</json:string><json:string>present study</json:string><json:string>viral infection</json:string><json:string>constant ndings</json:string><json:string>gastrointestinal symptoms</json:string><json:string>neutrophil percentage</json:string><json:string>common mutation</json:string><json:string>lung disorders</json:string><json:string>oxygen saturation</json:string><json:string>bril formation</json:string><json:string>nutritional support</json:string><json:string>viral infection prophylaxis</json:string><json:string>radiological features</json:string><json:string>respiratory distress</json:string><json:string>genetic mutations</json:string><json:string>centre hospitalier universitaire</json:string><json:string>physiol lung cell</json:string><json:string>lung surfactant protein</json:string><json:string>domain</json:string></teeft></keywords><author><json:item><name>Guillaume Thouvenin</name><affiliations><json:string>INSERM UMR_S U938, Paris, France</json:string><json:string>UPMC Université Paris 06, Paris, France</json:string><json:string>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item><json:item><name>Rola Abou Taam</name><affiliations><json:string>Université Paris Descartes, Paris, France</json:string><json:string>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Florence Flamein</name><affiliations><json:string>INSERM UMR_S U938, Paris, France</json:string><json:string>UPMC Université Paris 06, Paris, France</json:string></affiliations></json:item><json:item><name>Loïc Guillot</name><affiliations><json:string>INSERM UMR_S U938, Paris, France</json:string><json:string>UPMC Université Paris 06, Paris, France</json:string></affiliations></json:item><json:item><name>Muriel Le Bourgeois</name><affiliations><json:string>Université Paris Descartes, Paris, France</json:string><json:string>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Philippe Reix</name><affiliations><json:string>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</json:string></affiliations></json:item><json:item><name>Mickael Fayon</name><affiliations><json:string>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</json:string></affiliations></json:item><json:item><name>François Counil</name><affiliations><json:string>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</json:string></affiliations></json:item><json:item><name>Ulrika Depontbriand</name><affiliations><json:string>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</json:string></affiliations></json:item><json:item><name>Delphine Feldmann</name><affiliations><json:string>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item><json:item><name>Hubert Ducou-Le Pointe</name><affiliations><json:string>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item><json:item><name>Jacques de Blic</name><affiliations><json:string>Université Paris Descartes, Paris, France</json:string><json:string>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Annick Clement</name><affiliations><json:string>INSERM UMR_S U938, Paris, France</json:string><json:string>UPMC Université Paris 06, Paris, France</json:string><json:string>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item><json:item><name>Ralph Epaud</name><affiliations><json:string>INSERM UMR_S U938, Paris, France</json:string><json:string>UPMC Université Paris 06, Paris, France</json:string><json:string>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</json:string></affiliations></json:item></author><articleId><json:string>archdischild171553</json:string></articleId><arkIstex>ark:/67375/NVC-XX0WXSQG-2</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><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.</abstract><qualityIndicators><score>9.414</score><pdfWordCount>4582</pdfWordCount><pdfCharCount>31070</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>6</pdfPageCount><pdfPageSize>595.277 x 793.702 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>236</abstractWordCount><abstractCharCount>1776</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Characteristics of disorders associated with genetic mutations of surfactant protein C</title><pmid><json:string>20403820</json:string></pmid><genre><json:string>research-article</json:string></genre><host><title>Archives of Disease in Childhood</title><language><json:string>unknown</json:string></language><issn><json:string>0003-9888</json:string></issn><eissn><json:string>1468-2044</json:string></eissn><publisherId><json:string>adc</json:string></publisherId><volume>95</volume><issue>6</issue><pages><first>449</first></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>2010-04-19</json:string><json:string>2006</json:string></date><geogName></geogName><orgName><json:string>Biochemistry Department, Hôpital Armand Trousseau, Paris, France</json:string><json:string>Johns Hopkins University</json:string><json:string>Johns Hopkins Hospital, Baltimore, USA</json:string><json:string>Allergology Department, Groupement Hospitalier</json:string><json:string>Hills Bioreagents</json:string><json:string>Allergology Department, Hôpital Necker Enfants Malades, Paris, France</json:string><json:string>Radiology Department, Hôpital Armand Trousseau, Paris, France Correspondence</json:string><json:string>SAS Institute, Cary, North Carolina</json:string><json:string>Pediatric Pneumology Department and Inserm UMR</json:string><json:string>Pediatric Department, Hopital Pellegrin</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Delphine Feldmann</json:string><json:string>Arnaud de Villeneuve</json:string><json:string>Philippe Reix</json:string><json:string>François Counil</json:string><json:string>Ralph Epaud</json:string><json:string>Armand Trousseau</json:string><json:string>Mickael Fayon</json:string><json:string>Est</json:string><json:string>Arnold Netter</json:string><json:string>Patients</json:string><json:string>Annick Clement</json:string><json:string>Muriel Le Bourgeois</json:string><json:string>Ulrika Depontbriand</json:string><json:string>Paris Descartes</json:string><json:string>Loïc Guillot</json:string><json:string>Florence Flamein</json:string><json:string>Hubert Ducou-Le Pointe</json:string><json:string>Universitaire</json:string><json:string>Jacques de Blic</json:string></persName><placeName><json:string>Paris</json:string><json:string>Montpellier</json:string><json:string>Germany</json:string><json:string>Bordeaux</json:string><json:string>UK</json:string><json:string>Nantes</json:string><json:string>Baltimore</json:string><json:string>Slough</json:string><json:string>Saint Antoine</json:string><json:string>France</json:string><json:string>Lyon</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Bridges et al</json:string><json:string>Nogee et al</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/NVC-XX0WXSQG-2</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - pediatrics</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - pediatrics</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Pediatrics, Perinatology, and Child Health</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1136/adc.2009.171553</json:string></doi><id>9FAD17A85849C5EF44A5232B0F25376E4361956E</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-XX0WXSQG-2/fulltext.pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-XX0WXSQG-2/bundle.zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/ark:/67375/NVC-XX0WXSQG-2/fulltext.tei"><teiHeader><fileDesc><titleStmt><title level="a">Characteristics of disorders associated with genetic mutations of surfactant protein C</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><availability><licence><p>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</p></availability><date>2010-04-19</date></publicationStmt><notesStmt><note type="research-article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note><note>GT and RAT contributed equally to this work.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">Characteristics of disorders associated with genetic mutations of surfactant protein C</title><author xml:id="author-0000"><persName><forename type="first">Guillaume</forename><surname>Thouvenin</surname></persName><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Rola Abou</forename><surname>Taam</surname></persName><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Florence</forename><surname>Flamein</surname></persName><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Loïc</forename><surname>Guillot</surname></persName><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Muriel</forename><surname>Le Bourgeois</surname></persName><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0005"><persName><forename type="first">Philippe</forename><surname>Reix</surname></persName><affiliation>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</affiliation></author><author xml:id="author-0006"><persName><forename type="first">Mickael</forename><surname>Fayon</surname></persName><affiliation>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</affiliation></author><author xml:id="author-0007"><persName><forename type="first">François</forename><surname>Counil</surname></persName><affiliation>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Ulrika</forename><surname>Depontbriand</surname></persName><affiliation>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</affiliation></author><author xml:id="author-0009"><persName><forename type="first">Delphine</forename><surname>Feldmann</surname></persName><affiliation>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</affiliation></author><author xml:id="author-0010"><persName><forename type="first">Hubert Ducou-Le</forename><surname>Pointe</surname></persName><affiliation>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</affiliation></author><author xml:id="author-0011"><persName><forename type="first">Jacques</forename><surname>de Blic</surname></persName><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0012"><persName><forename type="first">Annick</forename><surname>Clement</surname></persName><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation></author><author xml:id="author-0013"><persName><forename type="first">Ralph</forename><surname>Epaud</surname></persName><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation></author><idno type="istex">9FAD17A85849C5EF44A5232B0F25376E4361956E</idno><idno type="ark">ark:/67375/NVC-XX0WXSQG-2</idno><idno type="DOI">10.1136/adc.2009.171553</idno><idno type="href">archdischild-95-449.pdf</idno><idno type="article-id">archdischild171553</idno><idno type="PMID">20403820</idno><idno type="local">archdischild;95/6/449</idno></analytic><monogr><title level="j">Archives of Disease in Childhood</title><title level="j" type="abbrev">Arch Dis Child</title><idno type="pISSN">0003-9888</idno><idno type="eISSN">1468-2044</idno><idno type="publisher-id">adc</idno><idno type="PublisherID-hwp">archdischild</idno><idno type="PublisherID-nlm-ta">Arch Dis Child</idno><imprint><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><date type="published" when="2010-06"></date><biblScope unit="volume">95</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="449">449</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010-04-19</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>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.</p></abstract></profileDesc><revisionDesc><change when="2010-04-19">Created</change><change when="2010-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-XX0WXSQG-2/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">archdischild</journal-id><journal-id journal-id-type="nlm-ta">Arch Dis Child</journal-id><journal-id journal-id-type="publisher-id">adc</journal-id><journal-title>Archives of Disease in Childhood</journal-title><abbrev-journal-title abbrev-type="publisher">Arch Dis Child</abbrev-journal-title><abbrev-journal-title>Arch Dis Child</abbrev-journal-title><issn pub-type="ppub">0003-9888</issn><issn pub-type="epub">1468-2044</issn><publisher><publisher-name>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">archdischild171553</article-id><article-id pub-id-type="doi">10.1136/adc.2009.171553</article-id><article-id pub-id-type="other">archdischild;95/6/449</article-id><article-id pub-id-type="other">archdischild;adc.2009.171553</article-id><article-id pub-id-type="pmid">20403820</article-id><article-id pub-id-type="other">449</article-id><article-id pub-id-type="other">adc.2009.171553</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Original articles</subject></subj-group></article-categories><title-group><article-title>Characteristics of disorders associated with genetic mutations of surfactant protein C</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Thouvenin</surname><given-names>Guillaume</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Taam</surname><given-names>Rola Abou</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Flamein</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Guillot</surname><given-names>Loïc</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Le Bourgeois</surname><given-names>Muriel</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Reix</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Fayon</surname><given-names>Mickael</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Counil</surname><given-names>François</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Depontbriand</surname><given-names>Ulrika</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Feldmann</surname><given-names>Delphine</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Pointe</surname><given-names>Hubert Ducou-Le</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>de Blic</surname><given-names>Jacques</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Clement</surname><given-names>Annick</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Epaud</surname><given-names>Ralph</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>INSERM UMR_S U938, Paris, France</aff><aff id="A2"><label>2</label>UPMC Université Paris 06, Paris, France</aff><aff id="A3"><label>3</label>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</aff><aff id="A4"><label>4</label>Université Paris Descartes, Paris, France</aff><aff id="A5"><label>5</label>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</aff><aff id="A6"><label>6</label>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</aff><aff id="A7"><label>7</label>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</aff><aff id="A8"><label>8</label>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</aff><aff id="A9"><label>9</label>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</aff><aff id="A10"><label>10</label>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</aff><aff id="A11"><label>11</label>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</aff><author-notes><corresp><label>Correspondence to</label> Dr Ralph Epaud, Pediatric Pneumology Department and Inserm UMR_S U938, Hôpital d'Enfants Armand Trousseau, 26 Avenue du Dr Arnold Netter, F-75571 Paris cedex 12, France; <email xlink:type="simple">ralph.epaud@trs.aphp.fr</email></corresp><fn><p>GT and RAT contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>6</month><year>2010</year></pub-date><pub-date pub-type="epub-original"><month>6</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>19</day><month>4</month><year>2010</year></pub-date><volume>95</volume><volume-id pub-id-type="other">95</volume-id><volume-id pub-id-type="other">95</volume-id><issue>6</issue><issue-id pub-id-type="other">archdischild;95/6</issue-id><issue-id pub-id-type="other">6</issue-id><issue-id pub-id-type="other">95/6</issue-id><fpage>449</fpage><history><date date-type="accepted"><day>12</day><month>1</month><year>2010</year></date></history><permissions><copyright-statement>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement><copyright-year>2010</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="archdischild-95-449.pdf"></self-uri><abstract><sec><title>Study objectives</title><p>To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (<italic>SFTPC</italic>) mutation.</p></sec><sec><title>Patients</title><p>Twenty-two children with chronic lung disease associated with <italic>SFTPC</italic> mutation in a heterozygous form.</p></sec><sec><title>Results</title><p>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.</p></sec><sec><title>Conclusion</title><p>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.</p></sec></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Characteristics of disorders associated with genetic mutations of surfactant protein C</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Characteristics of disorders associated with genetic mutations of surfactant protein C</title></titleInfo><name type="personal"><namePart type="given">Guillaume</namePart><namePart type="family">Thouvenin</namePart><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rola Abou</namePart><namePart type="family">Taam</namePart><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Florence</namePart><namePart type="family">Flamein</namePart><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Loïc</namePart><namePart type="family">Guillot</namePart><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Muriel</namePart><namePart type="family">Le Bourgeois</namePart><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Philippe</namePart><namePart type="family">Reix</namePart><affiliation>Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mickael</namePart><namePart type="family">Fayon</namePart><affiliation>Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">François</namePart><namePart type="family">Counil</namePart><affiliation>Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ulrika</namePart><namePart type="family">Depontbriand</namePart><affiliation>Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Delphine</namePart><namePart type="family">Feldmann</namePart><affiliation>AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hubert Ducou-Le</namePart><namePart type="family">Pointe</namePart><affiliation>AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jacques</namePart><namePart type="family">de Blic</namePart><affiliation>Université Paris Descartes, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annick</namePart><namePart type="family">Clement</namePart><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ralph</namePart><namePart type="family">Epaud</namePart><affiliation>INSERM UMR_S U938, Paris, France</affiliation><affiliation>UPMC Université Paris 06, Paris, France</affiliation><affiliation>AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health</publisher><dateIssued encoding="w3cdtf">2010-06</dateIssued><dateCreated encoding="w3cdtf">2010-04-19</dateCreated><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><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.</abstract><note type="footnotes">GT and RAT contributed equally to this work.</note><relatedItem type="host"><titleInfo><title>Archives of Disease in Childhood</title></titleInfo><titleInfo type="abbreviated"><title>Arch Dis Child</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0003-9888</identifier><identifier type="eISSN">1468-2044</identifier><identifier type="PublisherID">adc</identifier><identifier type="PublisherID-hwp">archdischild</identifier><identifier type="PublisherID-nlm-ta">Arch Dis Child</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>95</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>449</start></extent></part></relatedItem><identifier type="istex">9FAD17A85849C5EF44A5232B0F25376E4361956E</identifier><identifier type="ark">ark:/67375/NVC-XX0WXSQG-2</identifier><identifier type="DOI">10.1136/adc.2009.171553</identifier><identifier type="href">archdischild-95-449.pdf</identifier><identifier type="ArticleID">archdischild171553</identifier><identifier type="PMID">20403820</identifier><identifier type="local">archdischild;95/6/449</identifier><accessCondition type="use and reproduction" contentType="copyright">Published by the BMJ Publishing Group Limited. 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