Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
Identifieur interne : 001897 ( Istex/Corpus ); précédent : 001896; suivant : 001898Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
Auteurs : Chantal Loirat ; Jean-Pierre Girma ; Céline Desconclois ; Paul Coppo ; Agnès VeyradierSource :
- Pediatric Nephrology [ 0931-041X ] ; 2009-01-01.
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Abstract
Abstract: Thrombotic thrombocytopenic purpura (TTP) related to a severely deficient activity of the von Willebrand factor cleaving protease, ADAMTS (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats) 13, is a life-threatening event, the onset of which may occur as early as childhood. TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. Therapeutic perspectives are focused on the development of concentrated plasma-derived ADAMTS13 or recombinant ADAMTS13.
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DOI: 10.1007/s00467-008-0863-5
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ISTEX:5644B9A6905FD47BEF714BCEA5AB40E6FB4281A5Le document en format XML
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xml:lang="en">Abstract: Thrombotic thrombocytopenic purpura (TTP) related to a severely deficient activity of the von Willebrand factor cleaving protease, ADAMTS (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats) 13, is a life-threatening event, the onset of which may occur as early as childhood. TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. 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TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. 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TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. 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TocLevels="0"><IssueIDStart>1</IssueIDStart><IssueIDEnd>1</IssueIDEnd><IssueArticleCount>37</IssueArticleCount><IssueHistory><OnlineDate><Year>2008</Year><Month>12</Month><Day>6</Day></OnlineDate><PrintDate><Year>2008</Year><Month>12</Month><Day>5</Day></PrintDate><CoverDate><Year>2009</Year><Month>1</Month></CoverDate><PricelistYear>2009</PricelistYear></IssueHistory><IssueCopyright><CopyrightHolderName>IPNA</CopyrightHolderName><CopyrightYear>2009</CopyrightYear></IssueCopyright></IssueInfo><Article ID="s00467-008-0863-5" OutputMedium="All"><ArticleInfo ArticleType="ReviewPaper" ContainsESM="No" Language="En" NumberingStyle="Unnumbered" TocLevels="0"><ArticleID>863</ArticleID><ArticleDOI>10.1007/s00467-008-0863-5</ArticleDOI><ArticleCitationID>19</ArticleCitationID><ArticleSequenceNumber>4</ArticleSequenceNumber><ArticleTitle Language="En">Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children</ArticleTitle><ArticleCategory>Review</ArticleCategory><ArticleFirstPage>19</ArticleFirstPage><ArticleLastPage>29</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2008</Year><Month>4</Month><Day>17</Day></RegistrationDate><Received><Year>2008</Year><Month>2</Month><Day>7</Day></Received><Revised><Year>2008</Year><Month>4</Month><Day>7</Day></Revised><Accepted><Year>2008</Year><Month>4</Month><Day>10</Day></Accepted><OnlineDate><Year>2008</Year><Month>6</Month><Day>24</Day></OnlineDate></ArticleHistory><ArticleCopyright><CopyrightHolderName>IPNA</CopyrightHolderName><CopyrightYear>2008</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1 Aff2" CorrespondingAffiliationID="Aff1"><AuthorName DisplayOrder="Western"><GivenName>Chantal</GivenName><FamilyName>Loirat</FamilyName></AuthorName><Contact><Phone>+33-1-40032455</Phone><Fax>+33-1-40032468</Fax><Email>chantal.loirat@rdb.aphp.fr</Email></Contact></Author><Author AffiliationIDS="Aff3"><AuthorName DisplayOrder="Western"><GivenName>Jean-Pierre</GivenName><FamilyName>Girma</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff3 Aff4"><AuthorName DisplayOrder="Western"><GivenName>Céline</GivenName><FamilyName>Desconclois</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff2 Aff5"><AuthorName DisplayOrder="Western"><GivenName>Paul</GivenName><FamilyName>Coppo</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff2 Aff3 Aff4"><AuthorName DisplayOrder="Western"><GivenName>Agnès</GivenName><FamilyName>Veyradier</FamilyName></AuthorName></Author><Affiliation ID="Aff1"><OrgDivision>Service de Néphrologie</OrgDivision><OrgName>Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris VII</OrgName><OrgAddress><Street>48 Boulevard Sérurier</Street><Postcode>75019</Postcode><City>Paris</City><Country Code="FR">France</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgName>Centre National de Référence des Microangiopathies Thrombotiques de l’adulte et de l’enfant</OrgName><OrgAddress><City>Paris</City><Country Code="FR">France</Country></OrgAddress></Affiliation><Affiliation ID="Aff3"><OrgDivision>Inserm U770</OrgDivision><OrgName>Université Paris XI</OrgName><OrgAddress><City>Le Kremlin Bicêtre</City><Country Code="FR">France</Country></OrgAddress></Affiliation><Affiliation ID="Aff4"><OrgDivision>Service d’Hématologie biologique</OrgDivision><OrgName>Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris</OrgName><OrgAddress><City>Clamart</City><Country Code="FR">France</Country></OrgAddress></Affiliation><Affiliation ID="Aff5"><OrgDivision>Service d’Hématologie clinique</OrgDivision><OrgName>Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris, Université Paris VI</OrgName><OrgAddress><City>Paris</City><Country Code="FR">France</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para TextBreak="No">Thrombotic thrombocytopenic purpura (TTP) related to a severely deficient activity of the von Willebrand factor cleaving protease, ADAMTS (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats) 13, is a life-threatening event, the onset of which may occur as early as childhood. TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. Therapeutic perspectives are focused on the development of concentrated plasma-derived ADAMTS13 or recombinant ADAMTS13.</Para></Abstract><KeywordGroup Language="En"><Heading>Keywords</Heading><Keyword>Thrombotic thrombocytopenic purpura</Keyword><Keyword>Upshaw-Schulman syndrome</Keyword><Keyword>ADAMTS13</Keyword><Keyword>Plasmatherapy</Keyword><Keyword>Plasma exchange</Keyword></KeywordGroup></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children</title></titleInfo><name type="personal" displayLabel="corresp"><namePart type="given">Chantal</namePart><namePart type="family">Loirat</namePart><affiliation>Service de Néphrologie, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Université Paris VII, 48 Boulevard Sérurier, 75019, Paris, France</affiliation><affiliation>Centre National de Référence des Microangiopathies Thrombotiques de l’adulte et de l’enfant, Paris, France</affiliation><affiliation>E-mail: chantal.loirat@rdb.aphp.fr</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean-Pierre</namePart><namePart type="family">Girma</namePart><affiliation>Inserm U770, Université Paris XI, Le Kremlin Bicêtre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Céline</namePart><namePart type="family">Desconclois</namePart><affiliation>Inserm U770, Université Paris XI, Le Kremlin Bicêtre, France</affiliation><affiliation>Service d’Hématologie biologique, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul</namePart><namePart type="family">Coppo</namePart><affiliation>Centre National de Référence des Microangiopathies Thrombotiques de l’adulte et de l’enfant, Paris, France</affiliation><affiliation>Service d’Hématologie clinique, Hôpital Saint Antoine, Assistance Publique-Hôpitaux de Paris, Université Paris VI, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Agnès</namePart><namePart type="family">Veyradier</namePart><affiliation>Centre National de Référence des Microangiopathies Thrombotiques de l’adulte et de l’enfant, Paris, France</affiliation><affiliation>Inserm U770, Université Paris XI, Le Kremlin Bicêtre, France</affiliation><affiliation>Service d’Hématologie biologique, Hôpital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Clamart, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="review-article" displayLabel="ReviewPaper" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-L5L7X3NF-P">review-article</genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">2008-02-07</dateCreated><dateIssued encoding="w3cdtf">2009-01-01</dateIssued><copyrightDate encoding="w3cdtf">2008</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><abstract lang="en">Abstract: Thrombotic thrombocytopenic purpura (TTP) related to a severely deficient activity of the von Willebrand factor cleaving protease, ADAMTS (A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats) 13, is a life-threatening event, the onset of which may occur as early as childhood. TTP is either inherited (Upshaw-Schulman syndrome) via ADAMTS13 gene mutations (neonatal onset) or acquired via anti-ADAMTS13 autoantibodies (childhood onset). TTP is due to platelet- and von-Willebrand-factor-rich thrombi of the microvasculature, inducing mechanical hemolytic anemia, consumption thrombocytopenia, and multivisceral ischemia. Clinical course consists of relapsing acute events triggered mostly by infections, associated icterus and hyperbilirubinemia, severe hemolytic anemia with schistocytosis and a negative Coombs test, severe thrombocytopenia, and sometimes symptoms related to visceral ischemia (renal failure, central nervous system vascular events, other organ failure). The recently available ADAMTS13 laboratory investigation combining measurement of ADAMTS13 activity in plasma, search for an ADAMTS13 circulating inhibitor, and anti-ADAMTS13 IgG and ADAMTS13 gene sequencing is a crucial addition to TTP diagnosis. Plasma exchanges are first-line treatment of acquired TTP, combined with steroids and immunosuppressive drugs. Curative treatment of acute events in Upshaw-Schulman syndrome relies on plasma infusions (provider of active ADAMTS13). Guidelines for preventive treatment of relapses are not clearly established but should associate plasmatherapy and caution to triggers of relapses. Therapeutic perspectives are focused on the development of concentrated plasma-derived ADAMTS13 or recombinant ADAMTS13.</abstract><note>Review</note><subject lang="en"><genre>Keywords</genre><topic>Thrombotic thrombocytopenic purpura</topic><topic>Upshaw-Schulman syndrome</topic><topic>ADAMTS13</topic><topic>Plasmatherapy</topic><topic>Plasma exchange</topic></subject><relatedItem type="host"><titleInfo><title>Pediatric Nephrology</title><subTitle>Journal of the International Pediatric Nephrology Association</subTitle></titleInfo><titleInfo type="abbreviated"><title>Pediatr Nephrol</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><originInfo><publisher>Springer</publisher><dateIssued encoding="w3cdtf">2008-12-06</dateIssued><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><subject><genre>Medicine & Public Health</genre><topic>Pediatrics</topic></subject><identifier type="ISSN">0931-041X</identifier><identifier type="eISSN">1432-198X</identifier><identifier type="JournalID">467</identifier><identifier type="IssueArticleCount">37</identifier><identifier type="VolumeIssueCount">12</identifier><part><date>2009</date><detail type="volume"><number>24</number><caption>vol.</caption></detail><detail type="issue"><number>1</number><caption>no.</caption></detail><extent unit="pages"><start>19</start><end>29</end></extent></part><recordInfo><recordOrigin>IPNA, 2009</recordOrigin></recordInfo></relatedItem><identifier type="istex">5644B9A6905FD47BEF714BCEA5AB40E6FB4281A5</identifier><identifier type="ark">ark:/67375/VQC-X4C7J8TC-L</identifier><identifier type="DOI">10.1007/s00467-008-0863-5</identifier><identifier type="ArticleID">863</identifier><identifier type="ArticleID">s00467-008-0863-5</identifier><accessCondition type="use and reproduction" contentType="copyright">IPNA, 2008</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-3XSW68JL-F">springer</recordContentSource><recordOrigin>IPNA, 2008</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/ark:/67375/VQC-X4C7J8TC-L/record.json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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