title: A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome.
abstract: The haemolytic uraemic syndrome (HUS) is characterised by haemolytic anaemia, thrombocytopenia and acute renal failure. The majority of cases are seen in childhood and are preceded by an infection with Shiga-like toxin producing Escherichia coli (STEC-HUS; so-called typical HUS). Non-STEC or atypical HUS (aHUS) is seen in 5 to 10% of all cases and occurs at all ages. These patients have a poorer outcome and prognosis than patients with STEC-HUS. New insights into the pathogenesis of aHUS were revealed by the identification of mutations in genes encoding proteins of the alternative pathway of the complement system in aHUS patients. Specific information of the causative mutation is important for individualised patient care with respect to choice and efficacy of therapy, the outcome of renal transplantation, and the selection of living donors. This new knowledge about the aetiology of the disease has stimulated the development of more specific treatment modalities. Until now, plasma therapy was used with limited success in aHUS, but recent clinical trials have demonstrated that patients with aHUS can be effectively treated with complement inhibitors, such as the monoclonal anti-C5 inhibitor eculizumab.
authors.affiliation: Department of Paediatric Nephrology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
authors.forename: D
authors.initials: D
authors.lastname: Westra
authors.forename: J F M
authors.initials: JF
authors.lastname: Wetzels
authors.forename: E B
authors.initials: EB
authors.lastname: Volokhina
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: N C A J
authors.initials: NC
authors.lastname: van de Kar
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome; D051056:Complement Inactivating Agents / Q000627:therapeutic use*; D003165:Complement System Proteins / Q000235:genetics / Q000276:immunology; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D009154:Mutation; D011379:Prognosis; D016896:Treatment Outcome
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D051056:Complement Inactivating Agents; D003165:Complement System Proteins; C481642:eculizumab