A disorder of surfactant metabolism without identified genetic mutations.
Identifieur interne : 000225 ( PubMed/Corpus ); précédent : 000224; suivant : 000226A disorder of surfactant metabolism without identified genetic mutations.
Auteurs : Silvia Montella ; Timothy J. Vece ; Claire Langston ; Paola Carrera ; Lawrence M. Nogee ; Aaron Hamvas ; Angelo Manna ; Mariarosaria Cervasio ; Mara Cervasio ; Francesca SantamariaSource :
- Italian journal of pediatrics [ 1824-7288 ] ; 2015.
English descriptors
- KwdEn :
- Biopsy, Child, Preschool, DNA (genetics), DNA Mutational Analysis, Humans, Lung Diseases, Interstitial (diagnosis), Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (metabolism), Male, Mutation, Pulmonary Surfactant-Associated Protein C (genetics), Pulmonary Surfactant-Associated Protein C (metabolism), Tomography, X-Ray Computed.
- MESH :
- chemical , genetics : DNA, Pulmonary Surfactant-Associated Protein C.
- diagnosis : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial.
- metabolism : Lung Diseases, Interstitial, Pulmonary Surfactant-Associated Protein C.
- Biopsy, Child, Preschool, DNA Mutational Analysis, Humans, Male, Mutation, Tomography, X-Ray Computed.
Abstract
Surfactant metabolism disorders may result in diffuse lung disease in children.
DOI: 10.1186/s13052-015-0198-3
PubMed: 26606984
Links to Exploration step
pubmed:26606984Le document en format XML
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Vece</name><affiliation><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. tjvece@texaschildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation><nlm:affiliation>Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. cxlangst@texaschildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Carrera, Paola" sort="Carrera, Paola" uniqKey="Carrera P" first="Paola" last="Carrera">Paola Carrera</name><affiliation><nlm:affiliation>Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy. carrerapaola9@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Nogee, Lawrence M" sort="Nogee, Lawrence M" uniqKey="Nogee L" first="Lawrence M" last="Nogee">Lawrence M. Nogee</name><affiliation><nlm:affiliation>Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. lnogee@jhmi.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation><nlm:affiliation>Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine, St. Louis, MO, USA. ahamvas@luriechildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Manna, Angelo" sort="Manna, Angelo" uniqKey="Manna A" first="Angelo" last="Manna">Angelo Manna</name><affiliation><nlm:affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. manna.ange@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Cervasio, Mariarosaria" sort="Cervasio, Mariarosaria" uniqKey="Cervasio M" first="Mariarosaria" last="Cervasio">Mariarosaria Cervasio</name></author><author><name sortKey="Cervasio, Mara" sort="Cervasio, Mara" uniqKey="Cervasio M" first="Mara" last="Cervasio">Mara Cervasio</name><affiliation><nlm:affiliation>Department of Advanced Biomedical Sciences, Anatomo-Pathology Unit, Federico II University, Naples, Italy. mara.cervasio@tin.it.</nlm:affiliation></affiliation></author><author><name sortKey="Santamaria, Francesca" sort="Santamaria, Francesca" uniqKey="Santamaria F" first="Francesca" last="Santamaria">Francesca Santamaria</name><affiliation><nlm:affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. santamar@unina.it.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26606984</idno><idno type="pmid">26606984</idno><idno type="doi">10.1186/s13052-015-0198-3</idno><idno type="wicri:Area/PubMed/Corpus">000225</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000225</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A disorder of surfactant metabolism without identified genetic mutations.</title><author><name sortKey="Montella, Silvia" sort="Montella, Silvia" uniqKey="Montella S" first="Silvia" last="Montella">Silvia Montella</name><affiliation><nlm:affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. amina2004@virgilio.it.</nlm:affiliation></affiliation></author><author><name sortKey="Vece, Timothy J" sort="Vece, Timothy J" uniqKey="Vece T" first="Timothy J" last="Vece">Timothy J. Vece</name><affiliation><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. tjvece@texaschildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation><nlm:affiliation>Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. cxlangst@texaschildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Carrera, Paola" sort="Carrera, Paola" uniqKey="Carrera P" first="Paola" last="Carrera">Paola Carrera</name><affiliation><nlm:affiliation>Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy. carrerapaola9@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Nogee, Lawrence M" sort="Nogee, Lawrence M" uniqKey="Nogee L" first="Lawrence M" last="Nogee">Lawrence M. Nogee</name><affiliation><nlm:affiliation>Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. lnogee@jhmi.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation><nlm:affiliation>Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine, St. Louis, MO, USA. ahamvas@luriechildrens.org.</nlm:affiliation></affiliation></author><author><name sortKey="Manna, Angelo" sort="Manna, Angelo" uniqKey="Manna A" first="Angelo" last="Manna">Angelo Manna</name><affiliation><nlm:affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. manna.ange@gmail.com.</nlm:affiliation></affiliation></author><author><name sortKey="Cervasio, Mariarosaria" sort="Cervasio, Mariarosaria" uniqKey="Cervasio M" first="Mariarosaria" last="Cervasio">Mariarosaria Cervasio</name></author><author><name sortKey="Cervasio, Mara" sort="Cervasio, Mara" uniqKey="Cervasio M" first="Mara" last="Cervasio">Mara Cervasio</name><affiliation><nlm:affiliation>Department of Advanced Biomedical Sciences, Anatomo-Pathology Unit, Federico II University, Naples, Italy. mara.cervasio@tin.it.</nlm:affiliation></affiliation></author><author><name sortKey="Santamaria, Francesca" sort="Santamaria, Francesca" uniqKey="Santamaria F" first="Francesca" last="Santamaria">Francesca Santamaria</name><affiliation><nlm:affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. santamar@unina.it.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Italian journal of pediatrics</title><idno type="eISSN">1824-7288</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biopsy</term><term>Child, Preschool</term><term>DNA (genetics)</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Lung Diseases, Interstitial (diagnosis)</term><term>Lung Diseases, Interstitial (genetics)</term><term>Lung Diseases, Interstitial (metabolism)</term><term>Male</term><term>Mutation</term><term>Pulmonary Surfactant-Associated Protein C (genetics)</term><term>Pulmonary Surfactant-Associated Protein C (metabolism)</term><term>Tomography, X-Ray Computed</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" qualifier="diagnosis" 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="metabolism" xml:lang="en"><term>Lung Diseases, Interstitial</term><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Biopsy</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Surfactant metabolism disorders may result in diffuse lung disease in children.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26606984</PMID><DateCompleted><Year>2016</Year><Month>03</Month><Day>03</Day></DateCompleted><DateRevised><Year>2018</Year><Month>11</Month><Day>13</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1824-7288</ISSN><JournalIssue CitedMedium="Internet"><Volume>41</Volume><PubDate><Year>2015</Year><Month>Nov</Month><Day>25</Day></PubDate></JournalIssue><Title>Italian journal of pediatrics</Title><ISOAbbreviation>Ital J Pediatr</ISOAbbreviation></Journal><ArticleTitle>A disorder of surfactant metabolism without identified genetic mutations.</ArticleTitle><Pagination><MedlinePgn>93</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13052-015-0198-3</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Surfactant metabolism disorders may result in diffuse lung disease in children.</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in genes encoding surfactant proteins or transcription factors. Lung histology strongly suggested an abnormality of surfactant protein. A 7-month course of pulse intravenous high-dose methylprednisolone plus oral hydroxychloroquine and azithromycin led to gradual weaning from oxygen and oral steroids, and to improvement of cough and dyspnea. Over the follow-up period, hydroxychloroquine and azithromycin were not withdrawn as cough and dyspnea re-appeared at each attempt and disappeared at re-start. At 6 years of age chest HRCT still appeared unchanged, but clinical symptoms or signs were absent.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">In children suspected of inborn errors of pulmonary surfactant metabolism who do not have a recognized genetic mutation, lung biopsy with consistent histology may help physicians to address the definitive diagnosis.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Montella</LastName><ForeName>Silvia</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. amina2004@virgilio.it.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vece</LastName><ForeName>Timothy J</ForeName><Initials>TJ</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. tjvece@texaschildrens.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Langston</LastName><ForeName>Claire</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Pathology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA. cxlangst@texaschildrens.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Carrera</LastName><ForeName>Paola</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy. carrerapaola9@gmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nogee</LastName><ForeName>Lawrence M</ForeName><Initials>LM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. lnogee@jhmi.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hamvas</LastName><ForeName>Aaron</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine, St. Louis, MO, USA. ahamvas@luriechildrens.org.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Division of Neonatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. ahamvas@luriechildrens.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Manna</LastName><ForeName>Angelo</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. manna.ange@gmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cervasio</LastName><ForeName>Mariarosaria</ForeName><Initials>M</Initials></Author><Author ValidYN="N"><LastName>Cervasio</LastName><ForeName>Mara</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Advanced Biomedical Sciences, Anatomo-Pathology Unit, Federico II University, Naples, Italy. mara.cervasio@tin.it.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santamaria</LastName><ForeName>Francesca</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Department of Translational Medical Sciences, Federico II University, Via Sergio Pansini, 5 - 80131, Naples, Italy. santamar@unina.it.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>11</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Ital J Pediatr</MedlineTA><NlmUniqueID>101510759</NlmUniqueID><ISSNLinking>1720-8424</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance></Chemical><Chemical><RegistryNumber>9007-49-2</RegistryNumber><NameOfSubstance UI="D004247">DNA</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Ital J Pediatr. 2015;41:98</RefSource><PMID Version="1">26672746</PMID><Note>Cervasio, Mara [corrected to Cervasio, Mariarosaria]</Note></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D001706" MajorTopicYN="N">Biopsy</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004247" MajorTopicYN="N">DNA</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D037721" MajorTopicYN="N">Pulmonary Surfactant-Associated Protein C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray Computed</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>08</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>11</Month><Day>05</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>11</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>11</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>3</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26606984</ArticleId><ArticleId IdType="doi">10.1186/s13052-015-0198-3</ArticleId><ArticleId IdType="pii">10.1186/s13052-015-0198-3</ArticleId><ArticleId 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