title: Patient stratification and therapy in atypical haemolytic uraemic syndrome (aHUS).
abstract: Approximately 50% of aHUS patients have an underlying inherited and/or acquired abnormality of complement which predisposes to excessive activation of the alternative pathway. Use of complement inhibitors such as eculizumab to treat aHUS is therefore logical. Anecdotal reports and subsequent open-label trials demonstrated the efficacy of eculizumab in aHUS leading to approval by both the FDA and EMA. NHS England established in 2013 an interim national service for aHUS including funding for eculizumab for both new patients and those undergoing transplantation. NICE guidance now also recommends eculizumab for funding within the NHS in England under the coordination of an expert centre. The investigation and response to treatment in this cohort provides a unique resource for patient stratification.
authors.affiliation: Institute of Genetic Medicine and Cellular Medicine, Newcastle University, United Kingdom.
authors.forename: Edwin
authors.initials: E
authors.lastname: Wong
authors.affiliation: Institute of Genetic Medicine and Cellular Medicine, Newcastle University, United Kingdom.
authors.forename: Rachel
authors.initials: R
authors.lastname: Challis
authors.affiliation: Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom.
authors.forename: Neil
authors.initials: N
authors.lastname: Sheerin
authors.affiliation: Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom.
authors.forename: Sally
authors.initials: S
authors.lastname: Johnson
authors.affiliation: Institute of Genetic Medicine and Cellular Medicine, Newcastle University, United Kingdom.
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.affiliation: Institute of Genetic Medicine and Cellular Medicine, Newcastle University, United Kingdom. Electronic address: tim.goodship@ncl.ac.uk.
authors.forename: Timothy H J
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome / Q000235:genetics / Q000628:therapy*; D002986:Clinical Trials as Topic; D015331:Cohort Studies; D017242:Complement Factor H / Q000235:genetics*; D003170:Complement Pathway, Alternative / Q000235:genetics; D004739:England; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D016030:Kidney Transplantation; D008991:Monitoring, Physiologic; D018579:Patient Selection; D017410:Practice Guidelines as Topic; D012306:Risk; D066027:Transplant Recipients
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D007166:Immunosuppressive Agents; D017242:Complement Factor H; C481642:eculizumab
keywords: Complement; Genetics; Treatment; aHUS