Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes.
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.
Le Quintrec
Moglie
M
Service de Néphrologie, Hôpital Foch, 40 rue Worth, Suresnes, Paris, France.
Roumenina
Lubka
L
Noris
Marina
M
Frémeaux-Bacchi
Véronique
V
D017242:Complement Factor H / Q000235:genetics* / Q000276:immunology; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000276:immunology; D006801:Humans; D051916:Membrane Cofactor Protein / Q000235:genetics* / Q000276:immunology; D009154:Mutation; D019683:Penetrance
D051916:Membrane Cofactor Protein; D017242:Complement Factor H