Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS).
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.
Cordeliers Research Center, INSERM UMRS 872, Université Pierre et Marie Curie, and Université Paris Descartes, Paris, France.
Lubka T
LT
Roumenina
Roxane
R
Roquigny
Caroline
C
Blanc
Nelly
N
Poulain
Stéphanie
S
Ngo
Marie-Agnès
MA
Dragon-Durey
Véronique
V
Frémeaux-Bacchi
D000818:Animals; D065766:Atypical Hemolytic Uremic Syndrome; D003167:Complement Activation / Q000276:immunology; D017242:Complement Factor H / Q000235:genetics* / Q000276:immunology / Q000378:metabolism*; D004912:Erythrocytes / Q000276:immunology; D006461:Hemolysis / Q000276:immunology; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D006801:Humans; D012756:Sheep
D017242:Complement Factor H