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

Werner Lukas Pabst, Thomas J. Neuhaus, Samuel Nef, Elena Bresin, Andrea Zingg-Schenk, Giuseppina Spartà

Research output: Contribution to journalArticlepeer-review

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. Case-diagnosis/Treatment: 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

Original languageEnglish
Pages (from-to)1141-1144
Number of pages4
JournalPediatric Nephrology
Volume28
Issue number7
DOIs
Publication statusPublished - Jul 2013

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

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