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Semin Thromb Hemost 2010; 36(6): 641-652
DOI: 10.1055/s-0030-1262886
© Thieme Medical Publishers

Atypical Hemolytic Uremic Syndrome Associated with Mutations in Complement Regulator Genes

Moglie Le Quintrec1 , Lubka Roumenina2 , Marina Noris3 , Véronique Frémeaux-Bacchi2 , 4
  • 1Service de Néphrologie, Hôpital Foch, 40 rue Worth, Suresnes, Paris, France
  • 2Institut de recherche des Cordeliers, 15 rue de l'Ecole de Médecine, Paris, France
  • 3Transplant Research Center, Mario Negri Institute for Pharmacological Research, Ranica Bergamo, Italy
  • 4Assistance Publique des Hôpitaux de Paris, Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, 20 rue Leblanc, Paris, France
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Publikationsverlauf

Publikationsdatum:
23. September 2010 (online)

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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.

KEYWORDS

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

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Véronique Frémeaux-BacchiM.D. Ph.D. 

Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou

20 rue Leblanc, 75 015 Paris, France

eMail: veronique.fremeaux-bacchi@egp.aphp.fr