title: Successful long-term outcome after renal transplantation in a patient with atypical haemolytic uremic syndrome with combined membrane cofactor protein CD46 and complement factor I mutations.
abstract: BACKGROUND
  Atypical haemolytic uremic syndrome (aHUS) is often associated with a high risk of disease recurrence and subsequent graft loss after isolated renal transplantation. Evidence-based recommendations for a mutation-based management after renal transplantation in aHUS caused by a combined mutation with complement factor I (CFI) and membrane cofactor protein CD46 (MCP) are limited.
  
  
  METHODS
  We describe a 9-year-old boy with a first manifestation of aHUS at the age of 9 months carrying combined heterozygous mutations in the CFI and MCP genes. At the age of 5 years, he underwent isolated cadaveric renal transplantation. Fresh frozen plasma was administered during and after transplantation, tapered and finally stopped after 3 years.
  
  
  CONCLUSIONS
  During the 5-year follow-up after transplantation there have been no signs of aHUS recurrence and graft function has remained good. The combination of heterozygous MCP and CFI mutations with aHUS might have a positive impact on the post-transplant course, possibly predicting a lower risk of aHUS recurrence after an isolated cadaveric renal transplantation.
authors.affiliation: Pediatric Nephrology Unit, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland.
authors.forename: Werner Lukas
authors.initials: WL
authors.lastname: Pabst
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Neuhaus
authors.forename: Samuel
authors.initials: S
authors.lastname: Nef
authors.forename: Elena
authors.initials: E
authors.lastname: Bresin
authors.forename: Andrea
authors.initials: A
authors.lastname: Zingg-Schenk
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Spartà
mesh_terms: D065766:Atypical Hemolytic Uremic Syndrome; D016913:Blood Component Transfusion; D002648:Child; D017244:Complement Factor I / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006085:Graft Survival; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics / Q000601:surgery*; D006579:Heterozygote; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D016030:Kidney Transplantation; D008297:Male; D051916:Membrane Cofactor Protein / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: C497857:CD46 protein, human; D007166:Immunosuppressive Agents; D051916:Membrane Cofactor Protein; C493611:CFI protein, human; D017244:Complement Factor I