Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
Identifieur interne : 000E91 ( Istex/Corpus ); précédent : 000E90; suivant : 000E92Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
Auteurs : Jeroen Van Hoorn ; Arno Brouwers ; Matthias Griese ; Boris KramerSource :
- BMJ Case Reports [ 1757-790X ] ; 2014-03-19.
English descriptors
- Teeft :
- Alveolar type, Clinical condition, Clinical course, Curative treatment, Early onset, Elemental formula, Further permission, Gastric tube, Genetic disorders, Ground glass aspect, Ground glass attenuation, High resolution, Hrct, Hrct scan, Hydroxychloroquine, Individual cases, Interlobular septae, Interstitial lung disease, Length growth, Lung transplantation, Mechanical ventilation, Metabolism, Methylprednisolone pulse therapy, Mutation, Neonatal, Neonatal onset, Neonatal period, Neurological examination, Normal formula, Normal neurodevelopment, Normal range, Oral prednisolone, Patchy areas, Prospective studies, Pulmonary lavages, Remarkable improvement, Respiratory condition, Respiratory distress, Respiratory support, Respiratory symptoms, Severe onset, Sftpc, Sftpc gene, Sftpc mutations, Supplemental oxygen, Surfactant, Surfactant metabolism, Surfactant protein, Surfactant proteins, Systemic corticosteroids, Ventilation, Weight gain.
Abstract
The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.
Url:
DOI: 10.1136/bcr-2013-203053
Links to Exploration step
ISTEX:C3822EB24682B602B56B353B06DB62209CB18462Le document en format XML
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Griese</name><affiliation><mods:affiliation>Department of Pediatrics, Dr von Haunersches Kinderspital University of Munich, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kramer, Boris" sort="Kramer, Boris" uniqKey="Kramer B" first="Boris" last="Kramer">Boris Kramer</name><affiliation><mods:affiliation>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:C3822EB24682B602B56B353B06DB62209CB18462</idno><date when="2014" year="2014">2014</date><idno type="doi">10.1136/bcr-2013-203053</idno><idno type="url">https://api.istex.fr/ark:/67375/NVC-FM60DWQ2-1/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">000E91</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000E91</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress</title><author><name sortKey="Van Hoorn, Jeroen" sort="Van Hoorn, Jeroen" uniqKey="Van Hoorn J" first="Jeroen" last="Van Hoorn">Jeroen Van Hoorn</name><affiliation><mods:affiliation>Department of Pediatrics, VieCuri Medical Centre, Venlo, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Brouwers, Arno" sort="Brouwers, Arno" uniqKey="Brouwers A" first="Arno" last="Brouwers">Arno Brouwers</name><affiliation><mods:affiliation>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name><affiliation><mods:affiliation>Department of Pediatrics, Dr von Haunersches Kinderspital University of Munich, 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permission</term><term>Gastric tube</term><term>Genetic disorders</term><term>Ground glass aspect</term><term>Ground glass attenuation</term><term>High resolution</term><term>Hrct</term><term>Hrct scan</term><term>Hydroxychloroquine</term><term>Individual cases</term><term>Interlobular septae</term><term>Interstitial lung disease</term><term>Length growth</term><term>Lung transplantation</term><term>Mechanical ventilation</term><term>Metabolism</term><term>Methylprednisolone pulse therapy</term><term>Mutation</term><term>Neonatal</term><term>Neonatal onset</term><term>Neonatal period</term><term>Neurological examination</term><term>Normal formula</term><term>Normal neurodevelopment</term><term>Normal range</term><term>Oral prednisolone</term><term>Patchy areas</term><term>Prospective studies</term><term>Pulmonary lavages</term><term>Remarkable improvement</term><term>Respiratory condition</term><term>Respiratory distress</term><term>Respiratory support</term><term>Respiratory symptoms</term><term>Severe onset</term><term>Sftpc</term><term>Sftpc gene</term><term>Sftpc mutations</term><term>Supplemental oxygen</term><term>Surfactant</term><term>Surfactant metabolism</term><term>Surfactant protein</term><term>Surfactant proteins</term><term>Systemic corticosteroids</term><term>Ventilation</term><term>Weight gain</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>mechanical ventilation</json:string><json:string>mutation</json:string><json:string>surfactant</json:string><json:string>sftpc</json:string><json:string>surfactant protein</json:string><json:string>surfactant metabolism</json:string><json:string>hrct</json:string><json:string>hydroxychloroquine</json:string><json:string>respiratory symptoms</json:string><json:string>interstitial lung disease</json:string><json:string>neonatal</json:string><json:string>lung transplantation</json:string><json:string>respiratory distress</json:string><json:string>supplemental oxygen</json:string><json:string>clinical course</json:string><json:string>methylprednisolone pulse therapy</json:string><json:string>oral prednisolone</json:string><json:string>respiratory support</json:string><json:string>respiratory condition</json:string><json:string>sftpc mutations</json:string><json:string>genetic disorders</json:string><json:string>severe onset</json:string><json:string>weight gain</json:string><json:string>systemic corticosteroids</json:string><json:string>surfactant proteins</json:string><json:string>metabolism</json:string><json:string>neonatal period</json:string><json:string>patchy areas</json:string><json:string>ground glass attenuation</json:string><json:string>interlobular septae</json:string><json:string>early onset</json:string><json:string>remarkable improvement</json:string><json:string>pulmonary lavages</json:string><json:string>high resolution</json:string><json:string>ground glass aspect</json:string><json:string>normal formula</json:string><json:string>gastric tube</json:string><json:string>elemental formula</json:string><json:string>further permission</json:string><json:string>clinical condition</json:string><json:string>length growth</json:string><json:string>normal range</json:string><json:string>neurological examination</json:string><json:string>normal neurodevelopment</json:string><json:string>alveolar type</json:string><json:string>neonatal onset</json:string><json:string>sftpc gene</json:string><json:string>hrct scan</json:string><json:string>curative treatment</json:string><json:string>individual cases</json:string><json:string>prospective studies</json:string><json:string>ventilation</json:string></teeft></keywords><author><json:item><name>Jeroen van Hoorn</name><affiliations><json:string>Department of Pediatrics, VieCuri Medical Centre, Venlo, The Netherlands</json:string></affiliations></json:item><json:item><name>Arno Brouwers</name><affiliations><json:string>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</json:string></affiliations></json:item><json:item><name>Matthias Griese</name><affiliations><json:string>Department of Pediatrics, Dr von Haunersches Kinderspital University of Munich, Munich, Germany</json:string></affiliations></json:item><json:item><name>Boris Kramer</name><affiliations><json:string>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</json:string></affiliations></json:item></author><articleId><json:string>bcr-2013-203053</json:string></articleId><arkIstex>ark:/67375/NVC-FM60DWQ2-1</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>case-report</json:string></originalGenre><abstract>The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.</abstract><qualityIndicators><score>5.889</score><pdfWordCount>2461</pdfWordCount><pdfCharCount>15911</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>4</pdfPageCount><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>119</abstractWordCount><abstractCharCount>792</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress</title><pmid><json:string>24648475</json:string></pmid><genre><json:string>case-report</json:string></genre><host><title>BMJ Case Reports</title><language><json:string>unknown</json:string></language><eissn><json:string>1757-790X</json:string></eissn><publisherId><json:string>bmjcasereports</json:string></publisherId><volume>2014</volume><genre><json:string>journal</json:string></genre><subject><json:item><value>Rare disease</value></json:item><json:item><value>Female</value></json:item><json:item><value>Neonate</value></json:item><json:item><value>White</value></json:item><json:item><value>Paediatrics</value></json:item><json:item><value>Rare disease</value></json:item><json:item><value>Congenital disorders</value></json:item><json:item><value>Neonatal and paediatric intensive care</value></json:item></subject></host><namedEntities><unitex><date><json:string>2014</json:string></date><geogName></geogName><orgName><json:string>Institute of Laboratory Medicine and Human Genetics</json:string><json:string>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</json:string><json:string>Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, Prance</json:string><json:string>Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis</json:string><json:string>Germany Correspondence</json:string><json:string>Kinderspital University</json:string><json:string>Department of Pediatrics</json:string><json:string>Department of Pediatrics, Orbis Medical Centre, Sittard, The Netherlands</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Boris Kramer</json:string><json:string>Matthias Griese</json:string><json:string>von Haunersches</json:string><json:string>Echocardiography</json:string></persName><placeName><json:string>Germany</json:string><json:string>Munich</json:string><json:string>Venlo</json:string><json:string>Hoorn</json:string><json:string>Europe</json:string><json:string>Netherlands</json:string></placeName><ref_url><json:string>http://www.kids-lung-register.eu</json:string></ref_url><ref_bibl><json:string>Soraisham et al</json:string><json:string>Poterjoy et al</json:string><json:string>Hepping et al</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/NVC-FM60DWQ2-1</json:string></ark><categories><inist><json:string>1 - 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During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. 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journal-id-type="publisher-id">bmjcasereports</journal-id><journal-title>BMJ Case Reports</journal-title><abbrev-journal-title abbrev-type="publisher">BMJ Case Reports</abbrev-journal-title><issn pub-type="epub">1757-790X</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">bcr-2013-203053</article-id><article-id pub-id-type="doi">10.1136/bcr-2013-203053</article-id><article-id pub-id-type="other">casereports;2014/mar19_1/bcr2013203053</article-id><article-id pub-id-type="other">casereports;bcr-2013-203053</article-id><article-id pub-id-type="other">mar19_1</article-id><article-id pub-id-type="other">bcr-2013-203053</article-id><article-id pub-id-type="other">bcr-2013-203053</article-id><article-categories><subj-group subj-group-type="case-report-type"><subject>Rare disease</subject></subj-group><subj-group subj-group-type="search-fields"><subject content-type="sex">Female</subject><subject content-type="age">Neonate</subject><subject content-type="ethnicity">White</subject><subject content-type="region">Europe (West)</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Paediatrics</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Rare disease</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Congenital disorders</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Neonatal and paediatric intensive care</subject></subj-group><series-title>CASE REPORT</series-title></article-categories><title-group><article-title>Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>van Hoorn</surname><given-names>Jeroen</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Brouwers</surname><given-names>Arno</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Griese</surname><given-names>Matthias</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kramer</surname><given-names>Boris</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Department of Pediatrics</addr-line>, <institution>VieCuri Medical Centre</institution>, <addr-line>Venlo</addr-line>, <country>The</country> <country>Netherlands</country></aff><aff id="af2"><label>2</label><addr-line>Department of Pediatrics</addr-line>, <institution>Maastricht University Medical Centre</institution>, <addr-line>Maastricht</addr-line>, <country>The</country> <country>Netherlands</country></aff><aff id="af3"><label>3</label><addr-line>Department of Pediatrics</addr-line>, <institution>Dr von Haunersches Kinderspital University of Munich</institution>, <addr-line>Munich</addr-line>, <country>Germany</country></aff><author-notes><corresp><label>Correspondence to</label> Jeroen van Hoorn, <email>jvhoorn@viecuri.nl</email></corresp></author-notes><pub-date pub-type="collection"><year>2014</year></pub-date><pub-date pub-type="epub-original"><day>19</day><month>3</month><year>2014</year></pub-date><volume>2014</volume><volume-id pub-id-type="other">2014</volume-id><volume-id pub-id-type="other">2014</volume-id><elocation-id>bcr2013203053</elocation-id><history><date date-type="accepted"><day>18</day><month>2</month><year>2014</year></date></history><permissions><copyright-statement>2014 BMJ Publishing Group Ltd</copyright-statement><copyright-year>2014</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="casereports-2014-bcr-2013-203053.pdf"></self-uri><abstract><p>The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (<italic>SFTPC</italic>) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress</title><partName>CASE REPORT</partName></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress</title><partName>CASE REPORT</partName></titleInfo><name type="personal"><namePart type="given">Jeroen</namePart><namePart type="family">van Hoorn</namePart><affiliation>Department of Pediatrics, VieCuri Medical Centre, Venlo, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arno</namePart><namePart type="family">Brouwers</namePart><affiliation>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthias</namePart><namePart type="family">Griese</namePart><affiliation>Department of Pediatrics, Dr von Haunersches Kinderspital University of Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Boris</namePart><namePart type="family">Kramer</namePart><affiliation>Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="case-report" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</genre><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2014-03-19</dateIssued><copyrightDate encoding="w3cdtf">2014</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract>The clinical course and treatment in the first 2.5 years of life of a term-born girl with a severe onset of respiratory symptoms in the neonatal period caused by a p.Cys121Phe/C121F mutation in the gene of surfactant protein C (SFTPC) is described. During the first 9 months of life, she was mechanically ventilated. With methylprednisolone pulse therapy and oral prednisolone, she could eventually gradually be weaned from mechanical ventilation. At the age of 2.5 years, she is in a good clinical condition without any respiratory support and has a normal nutritional status and neurodevelopment. This clinical course with neonatal onset of respiratory insufficiency is remarkable since most patients with SFTPC mutations present with milder respiratory symptoms in the first years of life.</abstract><relatedItem type="host"><titleInfo><title>BMJ Case Reports</title></titleInfo><titleInfo type="abbreviated"><title>BMJ Case Reports</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><subject><genre>case-report-type</genre><topic>Rare disease</topic></subject><subject><genre>search-fields</genre><topic>Female</topic><topic>Neonate</topic><topic>White</topic><geographic>Europe (West)</geographic></subject><subject><genre>hwp-journal-coll</genre><topic>Paediatrics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Rare disease</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Congenital disorders</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Neonatal and paediatric intensive care</topic></subject><identifier type="eISSN">1757-790X</identifier><identifier type="PublisherID">bmjcasereports</identifier><identifier type="PublisherID-hwp">casereports</identifier><part><date>2014</date><detail type="volume"><caption>vol.</caption><number>2014</number></detail></part></relatedItem><identifier type="istex">C3822EB24682B602B56B353B06DB62209CB18462</identifier><identifier type="ark">ark:/67375/NVC-FM60DWQ2-1</identifier><identifier type="DOI">10.1136/bcr-2013-203053</identifier><identifier type="href">casereports-2014-bcr-2013-203053.pdf</identifier><identifier type="ArticleID">bcr-2013-203053</identifier><identifier type="local">casereports;2014/mar19_1/bcr2013203053</identifier><accessCondition type="use and reproduction" contentType="copyright">2014 BMJ Publishing Group Ltd</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</recordContentSource><recordOrigin>2014 BMJ Publishing Group Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-FM60DWQ2-1/record.json</uri></json:item></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/ark:/67375/NVC-FM60DWQ2-1/annexes.jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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