Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS)

Methods Mol Biol. 2014:1100:237-47. doi: 10.1007/978-1-62703-724-2_19.

Abstract

The atypical hemolytic uremic syndrome (aHUS) is a paradigm of a disease, caused by overactivation of the alternative complement pathway secondary to a not well-understood trigger event. About 60 % of the patients present genetic or acquired abnormalities in the proteins of the alternative complement pathway. In 40 % of the cases the affected protein is the complement regulator Factor H (FH)-30 % due to mutations and 10 % because of anti-FH autoantibodies. Here we describe the detailed protocol for a rapid test to analyse the functional defect associated with genetic or acquired FH-related abnormalities. It can be applied for the characterization of the underlying complement defect in aHUS, based on spontaneous lysis of non-sensitized sheep erythrocytes in contact with patients' plasma or serum.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Atypical Hemolytic Uremic Syndrome
  • Complement Activation / immunology
  • Complement Factor H / genetics*
  • Complement Factor H / immunology
  • Complement Factor H / metabolism*
  • Erythrocytes / immunology
  • Hemolysis / immunology
  • Hemolytic-Uremic Syndrome / diagnosis
  • Hemolytic-Uremic Syndrome / genetics
  • Hemolytic-Uremic Syndrome / immunology
  • Hemolytic-Uremic Syndrome / metabolism
  • Humans
  • Sheep

Substances

  • Complement Factor H