Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes

Semin Thromb Hemost. 2010 Sep;36(6):641-52. doi: 10.1055/s-0030-1262886. Epub 2010 Sep 23.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Complement Factor H / genetics*
  • Complement Factor H / immunology
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / immunology
  • Humans
  • Membrane Cofactor Protein / genetics*
  • Membrane Cofactor Protein / immunology
  • Mutation*
  • Penetrance


  • Membrane Cofactor Protein
  • Complement Factor H