Inherited bone marrow failure syndromes in adolescents and young adults
Identifieur interne : 003866 ( Pmc/Corpus ); précédent : 003865; suivant : 003867Inherited bone marrow failure syndromes in adolescents and young adults
Auteurs : David B. Wilson ; Daniel C. Link ; Philip J. Mason ; Monica BesslerSource :
- Annals of medicine [ 0785-3890 ] ; 2014.
Abstract
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.
Url:
DOI: 10.3109/07853890.2014.915579
PubMed: 24888387
PubMed Central: 4426964
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Inherited bone marrow failure syndromes in adolescents and young adults</title><author><name sortKey="Wilson, David B" sort="Wilson, David B" uniqKey="Wilson D" first="David B." last="Wilson">David B. Wilson</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Link, Daniel C" sort="Link, Daniel C" uniqKey="Link D" first="Daniel C." last="Link">Daniel C. Link</name><affiliation><nlm:aff id="A2">Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mason, Philip J" sort="Mason, Philip J" uniqKey="Mason P" first="Philip J." last="Mason">Philip J. Mason</name><affiliation><nlm:aff id="A3">Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Bessler, Monica" sort="Bessler, Monica" uniqKey="Bessler M" first="Monica" last="Bessler">Monica Bessler</name><affiliation><nlm:aff id="A3">Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Internal Medicine, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24888387</idno><idno type="pmc">4426964</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426964</idno><idno type="RBID">PMC:4426964</idno><idno type="doi">10.3109/07853890.2014.915579</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">003866</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003866</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Inherited bone marrow failure syndromes in adolescents and young adults</title><author><name sortKey="Wilson, David B" sort="Wilson, David B" uniqKey="Wilson D" first="David B." last="Wilson">David B. Wilson</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Link, Daniel C" sort="Link, Daniel C" uniqKey="Link D" first="Daniel C." last="Link">Daniel C. Link</name><affiliation><nlm:aff id="A2">Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mason, Philip J" sort="Mason, Philip J" uniqKey="Mason P" first="Philip J." last="Mason">Philip J. Mason</name><affiliation><nlm:aff id="A3">Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Bessler, Monica" sort="Bessler, Monica" uniqKey="Bessler M" first="Monica" last="Bessler">Monica Bessler</name><affiliation><nlm:aff id="A3">Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department of Internal Medicine, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Annals of medicine</title><idno type="ISSN">0785-3890</idno><idno type="eISSN">1365-2060</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8906388</journal-id><journal-id journal-id-type="pubmed-jr-id">1581</journal-id><journal-id journal-id-type="nlm-ta">Ann Med</journal-id><journal-id journal-id-type="iso-abbrev">Ann. Med.</journal-id><journal-title-group><journal-title>Annals of medicine</journal-title></journal-title-group><issn pub-type="ppub">0785-3890</issn><issn pub-type="epub">1365-2060</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24888387</article-id><article-id pub-id-type="pmc">4426964</article-id><article-id pub-id-type="doi">10.3109/07853890.2014.915579</article-id><article-id pub-id-type="manuscript">NIHMS685576</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Inherited bone marrow failure syndromes in adolescents and young adults</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Wilson</surname><given-names>David B.</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Link</surname><given-names>Daniel C.</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mason</surname><given-names>Philip J.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bessler</surname><given-names>Monica</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">4</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</aff><aff id="A2"><label>2</label>Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA</aff><aff id="A3"><label>3</label>Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA</aff><aff id="A4"><label>4</label>Department of Internal Medicine, University of Pennsylvania, Philadelphia, PA, USA</aff><author-notes><corresp id="FN1">Corresponding Author: David B. Wilson, M.D., Ph.D., Department of Pediatrics, Box 8208, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO, 63110 USA. Phone +1.314.286.2834, FAX +1.314.286.2839, <email>wilson_d@wustl.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>1</day><month>5</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>03</day><month>6</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>9</month><year>2015</year></pub-date><volume>46</volume><issue>6</issue><fpage>353</fpage><lpage>363</lpage><pmc-comment>elocation-id from pubmed: 10.3109/07853890.2014.915579</pmc-comment>
<abstract><p id="P1">The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.</p></abstract><kwd-group><kwd>anemia</kwd><kwd>Diamond-Blackfan</kwd><kwd>aplastic anemia</kwd><kwd>congenital neutropenia</kwd><kwd>dyskeratosis congenita</kwd><kwd>Fanconi anemia</kwd><kwd>myelodysplastic syndromes</kwd><kwd>Shwachman-Diamond syndrome</kwd><kwd>thrombocytopenia absent radii syndrome</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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