Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
Identifieur interne : 000179 ( France/Analysis ); précédent : 000178; suivant : 000180Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
Auteurs : Chantal Loirat [France] ; Jean-Pierre Girma [France] ; Céline Desconclois [France] ; Paul Coppo [France] ; Agnès Veyradier [France]Source :
- 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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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.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Orsay</li><li>Paris</li></settlement><orgName><li>Université Paris-Sud</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Loirat, Chantal" sort="Loirat, Chantal" uniqKey="Loirat C" first="Chantal" last="Loirat">Chantal Loirat</name></region><name sortKey="Coppo, Paul" sort="Coppo, Paul" uniqKey="Coppo P" first="Paul" last="Coppo">Paul Coppo</name><name sortKey="Coppo, Paul" sort="Coppo, Paul" uniqKey="Coppo P" first="Paul" last="Coppo">Paul Coppo</name><name sortKey="Desconclois, Celine" sort="Desconclois, Celine" uniqKey="Desconclois C" first="Céline" last="Desconclois">Céline Desconclois</name><name sortKey="Desconclois, Celine" sort="Desconclois, Celine" uniqKey="Desconclois C" first="Céline" last="Desconclois">Céline Desconclois</name><name sortKey="Girma, Jean Pierre" sort="Girma, Jean Pierre" uniqKey="Girma J" first="Jean-Pierre" last="Girma">Jean-Pierre Girma</name><name sortKey="Loirat, Chantal" sort="Loirat, Chantal" uniqKey="Loirat C" first="Chantal" last="Loirat">Chantal Loirat</name><name sortKey="Loirat, Chantal" sort="Loirat, Chantal" uniqKey="Loirat C" first="Chantal" last="Loirat">Chantal Loirat</name><name sortKey="Veyradier, Agnes" sort="Veyradier, Agnes" uniqKey="Veyradier A" first="Agnès" last="Veyradier">Agnès Veyradier</name><name sortKey="Veyradier, Agnes" sort="Veyradier, Agnes" uniqKey="Veyradier A" first="Agnès" last="Veyradier">Agnès Veyradier</name><name sortKey="Veyradier, Agnes" sort="Veyradier, Agnes" uniqKey="Veyradier A" first="Agnès" last="Veyradier">Agnès Veyradier</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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