title: The importance of genetic mutation screening to determine retransplantation following failed kidney allograft from recurrent atypical haemolytic ureamic syndrome.
abstract: We report the case of a patient with familial atypical haemolytic uraemic syndrome (aHUS) who underwent successful retransplantation 30 months following his failed first kidney allograft from recurrent aHUS. He achieved excellent graft function (creatinine 90 μmol/L), with no evidence of disease recurrence on standard maintenance immunosuppression 9 months after his second deceased donor kidney transplantation. Genetic mutation testing was not available prior to first transplant but screening prior to retransplant identified the patient as having a newly discovered mutation, c.T3566A, within exon 23 of the complement factor H (CFH) gene. Currently, public financing and subsidisation for eculizumab, a costly but effect complement (C5) inhibitor for the treatment of aHUS is not available in Australia. The decision for retransplantation must balance between the risk of disease recurrence and greater risk of death on dialysis. The absence of a more severe CFH genotype assisted in the decision for retransplantation and suggests the importance of genetic mutation screening in order to stratify the risk of disease recurrence and graft loss versus the benefit of transplantation.
authors.affiliation: Department of Renal Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
authors.forename: Samantha
authors.initials: S
authors.lastname: Chua
authors.forename: Germaine
authors.initials: G
authors.lastname: Wong
authors.forename: Wai Hon
authors.initials: WH
authors.lastname: Lim
mesh_terms: D065766:Atypical Hemolytic Uremic Syndrome / Q000150:complications / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation / Q000379:methods*; D008297:Male; D009154:Mutation; D012008:Recurrence; D012086:Reoperation; D055815:Young Adult
chemical_list: D017242:Complement Factor H