[Hereditary hemolytic uremic syndromes and thrombotic thrombocytopenic purpura]

Nephrol Ther. 2006 Jan:2 Suppl 2:S149-61.
[Article in French]

Abstract

During the last decade, major progresses have been performed in the understanding and classification of hereditary haemolytic uremic syndromes and thrombotic thrombocytopenic purpura. The identification of patients with congenital thrombotic thrombocytopenic purpura due to hereditary deficiency of von Willebrand factor protease (Adamts 13) is of primordial importance, as fresh frozen plasma infusions prevent relapses and the risk of visceral (mainly cerebral and renal) involvement. The identification of patients with haemolytic uremic syndromes due to mutations in the genes that encode complement alternative pathway regulatory proteins (factor H, factor I, MCP) opens the way to new physiopathologic and therapeutic advances.

Publication types

  • Review

MeSH terms

  • ADAM Proteins / genetics
  • ADAMTS13 Protein
  • Hemolytic-Uremic Syndrome / genetics*
  • Humans
  • Kidney Transplantation
  • Purpura, Thrombotic Thrombocytopenic / genetics*
  • Receptors, Thrombopoietin / genetics
  • von Willebrand Factor / genetics*

Substances

  • Receptors, Thrombopoietin
  • von Willebrand Factor
  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human