Characteristics of disorders associated with genetic mutations of surfactant protein C.
Identifieur interne : 000386 ( PubMed/Checkpoint ); précédent : 000385; suivant : 000387Characteristics of disorders associated with genetic mutations of surfactant protein C.
Auteurs : Guillaume Thouvenin [France] ; 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 [ 1468-2044 ] ; 2010.
Descripteurs français
- KwdFr :
- Bronchoscopie, Femelle, Glucocorticoïdes (usage thérapeutique), Humains, Liquide de lavage bronchoalvéolaire (), Mutation, Mâle, Nourrisson, Nouveau-né, Oxygénothérapie, Pneumopathies interstitielles (), Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (imagerie diagnostique), Pneumopathies interstitielles (métabolisme), Protéine C associée au surfactant pulmonaire (analyse), Protéine C associée au surfactant pulmonaire (génétique), Résultat thérapeutique, Tomodensitométrie, Âge de début.
- MESH :
- analyse : Protéine C associée au surfactant pulmonaire.
- génétique : Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
- imagerie diagnostique : Pneumopathies interstitielles.
- métabolisme : Pneumopathies interstitielles.
- usage thérapeutique : Glucocorticoïdes.
- Bronchoscopie, Femelle, Humains, Liquide de lavage bronchoalvéolaire, Mutation, Mâle, Nourrisson, Nouveau-né, Oxygénothérapie, Pneumopathies interstitielles, Résultat thérapeutique, Tomodensitométrie, Âge de début.
English descriptors
- KwdEn :
- Age of Onset, Bronchoalveolar Lavage Fluid (chemistry), Bronchoscopy, Female, Glucocorticoids (therapeutic use), Humans, Infant, Infant, Newborn, Lung Diseases, Interstitial (diagnostic imaging), Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (metabolism), Lung Diseases, Interstitial (therapy), Male, Mutation, Oxygen Inhalation Therapy, Pulmonary Surfactant-Associated Protein C (analysis), Pulmonary Surfactant-Associated Protein C (genetics), Tomography, X-Ray Computed, Treatment Outcome.
- MESH :
- chemical , analysis : Pulmonary Surfactant-Associated Protein C.
- chemical , genetics : Pulmonary Surfactant-Associated Protein C.
- chemical , therapeutic use : Glucocorticoids.
- chemistry : Bronchoalveolar Lavage Fluid.
- diagnostic imaging : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial.
- metabolism : Lung Diseases, Interstitial.
- therapy : Lung Diseases, Interstitial.
- Age of Onset, Bronchoscopy, Female, Humans, Infant, Infant, Newborn, Male, Mutation, Oxygen Inhalation Therapy, Tomography, X-Ray Computed, Treatment Outcome.
Abstract
To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.
DOI: 10.1136/adc.2009.171553
PubMed: 20403820
Affiliations:
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Computed</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Bronchoscopie</term><term>Femelle</term><term>Glucocorticoïdes (usage thérapeutique)</term><term>Humains</term><term>Liquide de lavage bronchoalvéolaire ()</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Oxygénothérapie</term><term>Pneumopathies interstitielles ()</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (imagerie diagnostique)</term><term>Pneumopathies interstitielles (métabolisme)</term><term>Protéine C associée au surfactant pulmonaire (analyse)</term><term>Protéine C associée au surfactant pulmonaire (génétique)</term><term>Résultat thérapeutique</term><term>Tomodensitométrie</term><term>Âge de début</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Glucocorticoids</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>Protéine C associée au surfactant pulmonaire</term></keywords><keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Bronchoalveolar Lavage Fluid</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Protéine C associée au surfactant pulmonaire</term></keywords><keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Glucocorticoïdes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Bronchoscopy</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Mutation</term><term>Oxygen Inhalation Therapy</term><term>Tomography, X-Ray Computed</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Bronchoscopie</term><term>Femelle</term><term>Humains</term><term>Liquide de lavage bronchoalvéolaire</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Oxygénothérapie</term><term>Pneumopathies interstitielles</term><term>Résultat thérapeutique</term><term>Tomodensitométrie</term><term>Âge de début</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20403820</PMID><DateCompleted><Year>2010</Year><Month>08</Month><Day>23</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-2044</ISSN><JournalIssue CitedMedium="Internet"><Volume>95</Volume><Issue>6</Issue><PubDate><Year>2010</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Archives of disease in childhood</Title><ISOAbbreviation>Arch. Dis. Child.</ISOAbbreviation></Journal><ArticleTitle>Characteristics of disorders associated with genetic mutations of surfactant protein C.</ArticleTitle><Pagination><MedlinePgn>449-54</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/adc.2009.171553</ELocationID><Abstract><AbstractText Label="STUDY OBJECTIVES" NlmCategory="OBJECTIVE">To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.</AbstractText><AbstractText Label="PATIENTS" NlmCategory="METHODS">Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form.</AbstractText><AbstractText Label="RESULTS" NlmCategory="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+/-56x10(3) 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.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Thouvenin</LastName><ForeName>Guillaume</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>INSERM UMR_S U938, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abou Taam</LastName><ForeName>Rola</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Flamein</LastName><ForeName>Florence</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Guillot</LastName><ForeName>Loïc</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Le Bourgeois</LastName><ForeName>Muriel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Reix</LastName><ForeName>Philippe</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Fayon</LastName><ForeName>Mickael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Counil</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Depontbriand</LastName><ForeName>Ulrika</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Feldmann</LastName><ForeName>Delphine</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Pointe</LastName><ForeName>Hubert Ducou-Le</ForeName><Initials>HD</Initials></Author><Author ValidYN="Y"><LastName>de Blic</LastName><ForeName>Jacques</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Clement</LastName><ForeName>Annick</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Epaud</LastName><ForeName>Ralph</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016448">Multicenter Study</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2010</Year><Month>04</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Arch Dis Child</MedlineTA><NlmUniqueID>0372434</NlmUniqueID><ISSNLinking>0003-9888</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005938">Glucocorticoids</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001992" MajorTopicYN="N">Bronchoalveolar Lavage Fluid</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001999" MajorTopicYN="N">Bronchoscopy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005938" MajorTopicYN="N">Glucocorticoids</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010102" MajorTopicYN="N">Oxygen Inhalation Therapy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D037721" MajorTopicYN="N">Pulmonary Surfactant-Associated Protein C</DescriptorName><QualifierName UI="Q000032" MajorTopicYN="N">analysis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray Computed</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="N">Treatment Outcome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>4</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>4</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>8</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20403820</ArticleId><ArticleId IdType="pii">adc.2009.171553</ArticleId><ArticleId IdType="doi">10.1136/adc.2009.171553</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Abou Taam, Rola" sort="Abou Taam, Rola" uniqKey="Abou Taam R" first="Rola" last="Abou Taam">Rola Abou Taam</name><name sortKey="Clement, Annick" sort="Clement, Annick" uniqKey="Clement A" first="Annick" last="Clement">Annick Clement</name><name sortKey="Counil, Francois" sort="Counil, Francois" uniqKey="Counil F" first="François" last="Counil">François Counil</name><name sortKey="De Blic, Jacques" sort="De Blic, Jacques" uniqKey="De Blic J" first="Jacques" last="De Blic">Jacques De Blic</name><name sortKey="Depontbriand, Ulrika" sort="Depontbriand, Ulrika" uniqKey="Depontbriand U" first="Ulrika" last="Depontbriand">Ulrika Depontbriand</name><name sortKey="Epaud, Ralph" sort="Epaud, Ralph" uniqKey="Epaud R" first="Ralph" last="Epaud">Ralph Epaud</name><name sortKey="Fayon, Mickael" sort="Fayon, Mickael" uniqKey="Fayon M" first="Mickael" last="Fayon">Mickael Fayon</name><name sortKey="Feldmann, Delphine" sort="Feldmann, Delphine" uniqKey="Feldmann D" first="Delphine" last="Feldmann">Delphine Feldmann</name><name sortKey="Flamein, Florence" sort="Flamein, Florence" uniqKey="Flamein F" first="Florence" last="Flamein">Florence Flamein</name><name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name><name sortKey="Le Bourgeois, Muriel" sort="Le Bourgeois, Muriel" uniqKey="Le Bourgeois M" first="Muriel" last="Le Bourgeois">Muriel Le Bourgeois</name><name sortKey="Pointe, Hubert Ducou Le" sort="Pointe, Hubert Ducou Le" uniqKey="Pointe H" first="Hubert Ducou-Le" last="Pointe">Hubert Ducou-Le Pointe</name><name sortKey="Reix, Philippe" sort="Reix, Philippe" uniqKey="Reix P" first="Philippe" last="Reix">Philippe Reix</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Thouvenin, Guillaume" sort="Thouvenin, Guillaume" uniqKey="Thouvenin G" first="Guillaume" last="Thouvenin">Guillaume Thouvenin</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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