A disorder of surfactant metabolism without identified genetic mutations.
Identifieur interne : 000321 ( Ncbi/Merge ); précédent : 000320; suivant : 000322A disorder of surfactant metabolism without identified genetic mutations.
Auteurs : Silvia Montella [Italie] ; Timothy J. Vece [États-Unis] ; Claire Langston [États-Unis] ; Paola Carrera [Italie] ; Lawrence M. Nogee [États-Unis] ; Aaron Hamvas [États-Unis] ; Angelo Manna [Italie] ; Mariarosaria Cervasio ; Mara Cervasio [Italie] ; Francesca Santamaria [Italie]Source :
- Italian journal of pediatrics [ 1824-7288 ] ; 2015.
Descripteurs français
- KwdFr :
- ADN (génétique), Analyse de mutations d'ADN, Biopsie, Enfant d'âge préscolaire, Humains, Mutation, Mâle, Pneumopathies interstitielles (diagnostic), Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (métabolisme), Protéine C associée au surfactant pulmonaire (génétique), Protéine C associée au surfactant pulmonaire (métabolisme), Tomodensitométrie.
- MESH :
- diagnostic : Pneumopathies interstitielles.
- génétique : ADN, Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
- métabolisme : Pneumopathies interstitielles, Protéine C associée au surfactant pulmonaire.
- Analyse de mutations d'ADN, Biopsie, Enfant d'âge préscolaire, Humains, Mutation, Mâle, Tomodensitométrie.
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 toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000225
- to stream PubMed, to step Curation: 000225
- to stream PubMed, to step Checkpoint: 000265
Links to Exploration step
pubmed:26606984Le document en format XML
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<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="KwdFr" xml:lang="fr"><term>ADN (génétique)</term>
<term>Analyse de mutations d'ADN</term>
<term>Biopsie</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pneumopathies interstitielles (diagnostic)</term>
<term>Pneumopathies interstitielles (génétique)</term>
<term>Pneumopathies interstitielles (métabolisme)</term>
<term>Protéine C associée au surfactant pulmonaire (génétique)</term>
<term>Protéine C associée au surfactant pulmonaire (métabolisme)</term>
<term>Tomodensitométrie</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="diagnostic" xml:lang="fr"><term>Pneumopathies interstitielles</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>ADN</term>
<term>Pneumopathies interstitielles</term>
<term>Protéine C associée au surfactant pulmonaire</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" qualifier="métabolisme" xml:lang="fr"><term>Pneumopathies interstitielles</term>
<term>Protéine C associée au surfactant pulmonaire</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>
<keywords scheme="MESH" xml:lang="fr"><term>Analyse de mutations d'ADN</term>
<term>Biopsie</term>
<term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Tomodensitométrie</term>
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<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>
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<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>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance>
</Chemical>
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<CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Ital J Pediatr. 2015;41:98</RefSource>
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