Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Identifieur interne : 000310 ( PubMed/Curation ); précédent : 000309; suivant : 000311Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Auteurs : Zeynep Ar Kan-Ayy Ld Z [Turquie] ; Sule Caglayan-Sozmen ; Sakine Is K ; Robin Deterding ; Megan K. Dishop ; Remy Couderc ; Ralph Epaud ; Malek Louha ; Nevin UzunerSource :
- Pediatric pulmonology [ 1099-0496 ] ; 2014.
Descripteurs français
- KwdFr :
- Anti-inflammatoires (usage thérapeutique), Antibactériens (usage thérapeutique), Azithromycine (usage thérapeutique), Consanguinité, Fratrie, Gènes récessifs, Homozygote, Humains, Hydroxychloroquine (usage thérapeutique), Microscopie électronique, Mutation faux-sens (génétique), Mâle, Méthylprednisolone (usage thérapeutique), Nourrisson, Oxygénothérapie, Pedigree, Phénotype, Poumon (anatomopathologie), Poumon (imagerie diagnostique), Poumon (ultrastructure), Protéine C associée au surfactant pulmonaire (génétique), Protéinose alvéolaire pulmonaire (diagnostic), Protéinose alvéolaire pulmonaire (génétique), Radiographie, Résultat thérapeutique, Syndrome de détresse respiratoire de l'adulte (), Syndrome de détresse respiratoire de l'adulte (génétique), Ventilation artificielle.
- MESH :
- anatomopathologie : Poumon.
- diagnostic : Protéinose alvéolaire pulmonaire.
- génétique : Mutation faux-sens, Protéine C associée au surfactant pulmonaire, Protéinose alvéolaire pulmonaire, Syndrome de détresse respiratoire de l'adulte.
- imagerie diagnostique : Poumon.
- usage thérapeutique : Anti-inflammatoires, Antibactériens, Azithromycine, Hydroxychloroquine, Méthylprednisolone, Poumon.
- Consanguinité, Fratrie, Gènes récessifs, Homozygote, Humains, Microscopie électronique, Mâle, Nourrisson, Oxygénothérapie, Pedigree, Phénotype, Radiographie, Résultat thérapeutique, Syndrome de détresse respiratoire de l'adulte, Ventilation artificielle.
English descriptors
- KwdEn :
- Anti-Bacterial Agents (therapeutic use), Anti-Inflammatory Agents (therapeutic use), Azithromycin (therapeutic use), Consanguinity, Genes, Recessive, Homozygote, Humans, Hydroxychloroquine (therapeutic use), Infant, Lung (diagnostic imaging), Lung (pathology), Lung (ultrastructure), Male, Methylprednisolone (therapeutic use), Microscopy, Electron, Mutation, Missense (genetics), Oxygen Inhalation Therapy, Pedigree, Phenotype, Pulmonary Alveolar Proteinosis (diagnosis), Pulmonary Alveolar Proteinosis (genetics), Pulmonary Surfactant-Associated Protein C (genetics), Radiography, Respiration, Artificial, Respiratory Distress Syndrome, Adult (genetics), Respiratory Distress Syndrome, Adult (therapy), Siblings, Treatment Outcome.
- MESH :
- chemical , genetics : Pulmonary Surfactant-Associated Protein C.
- chemical , therapeutic use : Anti-Bacterial Agents, Anti-Inflammatory Agents, Azithromycin, Hydroxychloroquine, Methylprednisolone.
- diagnosis : Pulmonary Alveolar Proteinosis.
- diagnostic imaging : Lung.
- genetics : Mutation, Missense, Pulmonary Alveolar Proteinosis, Respiratory Distress Syndrome, Adult.
- pathology : Lung.
- therapy : Respiratory Distress Syndrome, Adult.
- ultrastructure : Lung.
- Consanguinity, Genes, Recessive, Homozygote, Humans, Infant, Male, Microscopy, Electron, Oxygen Inhalation Therapy, Pedigree, Phenotype, Radiography, Respiration, Artificial, Siblings, Treatment Outcome.
Abstract
Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.
DOI: 10.1002/ppul.22976
PubMed: 24347240
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de l'adulte</term><term>Ventilation artificielle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24347240</PMID><DateCompleted><Year>2014</Year><Month>10</Month><Day>22</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1099-0496</ISSN><JournalIssue CitedMedium="Internet"><Volume>49</Volume><Issue>3</Issue><PubDate><Year>2014</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Pediatric pulmonology</Title><ISOAbbreviation>Pediatr. Pulmonol.</ISOAbbreviation></Journal><ArticleTitle>Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.</ArticleTitle><Pagination><MedlinePgn>E112-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/ppul.22976</ELocationID><Abstract><AbstractText>Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.</AbstractText><CopyrightInformation>© 2013 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Arıkan-Ayyıldız</LastName><ForeName>Zeynep</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caglayan-Sozmen</LastName><ForeName>Sule</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Isık</LastName><ForeName>Sakine</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Deterding</LastName><ForeName>Robin</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Dishop</LastName><ForeName>Megan K</ForeName><Initials>MK</Initials></Author><Author ValidYN="Y"><LastName>Couderc</LastName><ForeName>Remy</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Epaud</LastName><ForeName>Ralph</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Louha</LastName><ForeName>Malek</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Uzuner</LastName><ForeName>Nevin</ForeName><Initials>N</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>12</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Pediatr Pulmonol</MedlineTA><NlmUniqueID>8510590</NlmUniqueID><ISSNLinking>1099-0496</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000900">Anti-Bacterial Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000893">Anti-Inflammatory Agents</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489679">SFTPC protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>4QWG6N8QKH</RegistryNumber><NameOfSubstance UI="D006886">Hydroxychloroquine</NameOfSubstance></Chemical><Chemical><RegistryNumber>83905-01-5</RegistryNumber><NameOfSubstance UI="D017963">Azithromycin</NameOfSubstance></Chemical><Chemical><RegistryNumber>X4W7ZR7023</RegistryNumber><NameOfSubstance UI="D008775">Methylprednisolone</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000900" MajorTopicYN="N">Anti-Bacterial Agents</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000893" MajorTopicYN="N">Anti-Inflammatory Agents</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017963" MajorTopicYN="N">Azithromycin</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005808" MajorTopicYN="N">Genes, Recessive</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006720" MajorTopicYN="Y">Homozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006886" MajorTopicYN="N">Hydroxychloroquine</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008168" MajorTopicYN="N">Lung</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="Y">diagnostic imaging</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName><QualifierName UI="Q000648" MajorTopicYN="N">ultrastructure</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008775" MajorTopicYN="N">Methylprednisolone</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008854" MajorTopicYN="N">Microscopy, Electron</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010102" MajorTopicYN="N">Oxygen Inhalation Therapy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011649" MajorTopicYN="N">Pulmonary Alveolar Proteinosis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D037721" MajorTopicYN="N">Pulmonary Surfactant-Associated Protein C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011859" MajorTopicYN="N">Radiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012121" MajorTopicYN="N">Respiration, Artificial</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012128" MajorTopicYN="N">Respiratory Distress Syndrome, Adult</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D035781" MajorTopicYN="N">Siblings</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="N">Treatment Outcome</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">SFTPC</Keyword><Keyword MajorTopicYN="N">autosomal recessive</Keyword><Keyword MajorTopicYN="N">surfactant protein C deficiency</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>07</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>11</Month><Day>03</Day></PubMedPubDate><PubMedPubDate 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