title: Thrombotic thrombocytopenic purpura in children.
abstract: OBJECTIVE
  Thrombotic thrombocytopenic purpura (TTP) is a rare life-threatening disease in children, due to a severe deficiency of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 repeats, member 13), inherited in congenital TTP or secondary to anti-ADAMTS13 antibodies in acquired TTP. Rapid techniques for ADAMTS 13 assays, long-term follow-up of patients, phenotype-genotype analysis, improved therapeutic schedules, and new therapies have emerged.
  
  
  RESULTS
  Rapid techniques for ADAMTS13 assays now permit rapid confirmation of diagnosis. In congenital TTP, mutations affecting the N-terminal domains of ADAMTS13 are associated with lower residual ADAMTS13 activity and more severe phenotype. Early initiation of plasma infusion treatment and lifelong prophylactic plasma infusion have decreased mortality and sequels and prevent relapses. In acquired TTP, a disease of adolescents but also of children less than 2, adding rituximab to plasma exchange is beneficial. Recombinant ADAMTS13 ought to be soon available for congenital TTP, while acquired TTP children might benefit from its administration, alone or in association with rituximab, to avoid or limit plasma exchange duration.
  
  
  CONCLUSIONS
  Progress in the understanding of TTP has boosted physicians' awareness that diagnosis and treatment are medical emergencies. New therapies hopefully will decrease treatment burden and improve prognosis.
authors: Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service de Néphrologie, Université Paris VII, Paris, France. chantal.loirat@rdb.aphp.fr
authors: Chantal
authors: C
authors: Loirat
authors: Paul
authors: P
authors: Coppo
authors: Agnès
authors: A
authors: Veyradier
mesh_terms: D051722:ADAM Proteins / Q000097:blood / Q000172:deficiency / Q000235:genetics / Q000627:therapeutic use; D000071120:ADAMTS13 Protein; D002648:Child; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D010951:Plasma Exchange; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011994:Recombinant Proteins; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human