title: Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.
abstract: BACKGROUND
  Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition
  
  
  METHODS
  We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses she had evidence of ongoing C5 cleavage despite a good clinical response.
  
  
  CONCLUSIONS
  Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients.
authors.affiliation: Regional Paediatric Nephro-Urology Unit, Southampton Children's Hospital, Tremona Road, Southampton, SO16 6YD, UK. Rodney.Gilbert@uhs.nhs.uk
authors.forename: Rodney D
authors.initials: RD
authors.lastname: Gilbert
authors.forename: Darren J
authors.initials: DJ
authors.lastname: Fowler
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Angus
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Hardy
authors.forename: Louise
authors.initials: L
authors.lastname: Stanley
authors.forename: Timothy H
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D011415:Complement Factor B / Q000235:genetics*; D015938:Complement Membrane Attack Complex / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use*; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000097:blood; D009154:Mutation; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D015415:Biomarkers; D015938:Complement Membrane Attack Complex; D007155:Immunologic Factors; C481642:eculizumab; D007770:L-Lactate Dehydrogenase; D011415:Complement Factor B