Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes

Moglie Le Quintrec, Lubka Roumenina, Marina Noris, Véronique Frémeaux-Bacchi

Research output: Contribution to journalArticle

Abstract

In the last 10 years the knowledge of the pathophysiology of atypical hemolytic uremic syndrome (aHUS) has substantially increased. Nevertheless, aHUS remains a severe disorder, in which early recognition of symptoms remains a key issue. The landmark discovery of genetic abnormalities in complement regulatory genes in most patients gave us new insights into the influence of each abnormality on the disease outcome and opened new perspectives for patient management. This allows a potentially more tailored approach in treating aHUS patients.

Original languageEnglish
Pages (from-to)641-652
Number of pages12
JournalSeminars in Thrombosis and Hemostasis
Volume36
Issue number6
DOIs
Publication statusPublished - 2010

Keywords

  • C3
  • CFH
  • CFI
  • factor B
  • MCP
  • thrombomodulin and thrombotic microangiopathy

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

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