title: Atypical hemolytic uremic syndrome.
abstract: Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is reported, suggesting that a precipitating event or trigger is required to unmask the complement regulatory deficiency. The underlying genetic defect predicts the prognosis both in native kidneys and after renal transplantation. The successful trials of the complement inhibitor eculizumab in the treatment of atypical HUS will revolutionize disease management.
authors.affiliation: The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address: david.kavanagh@ncl.ac.uk.
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.forename: Tim H
authors.initials: TH
authors.lastname: Goodship
authors.forename: Anna
authors.initials: A
authors.lastname: Richards
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D065766:Atypical Hemolytic Uremic Syndrome; D001323:Autoantibodies; D003167:Complement Activation / Q000502:physiology*; D017242:Complement Factor H / Q000235:genetics / Q000276:immunology; D003165:Complement System Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D006463:Hemolytic-Uremic Syndrome / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D016030:Kidney Transplantation / Q000009:adverse effects / Q000401:mortality; D015985:Precipitating Factors
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D001323:Autoantibodies; D017242:Complement Factor H; D003165:Complement System Proteins; C481642:eculizumab
keywords: Complement; eculizumab; factor H; factor I; hemolytic uremic syndrome; membrane cofactor protein; thrombomodulin; transplantation