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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

Pabst, Werner ; Neuhaus, Thomas ; Nef, Samuel ; Bresin, Elena ; Zingg-Schenk, Andrea ; Spartà, Giuseppina

In: Pediatric Nephrology, 2013, vol. 28, no. 7, p. 1141-1144

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    Titel
    • 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
    Autor
    • Pabst, Werner. Pediatric Nephrology Unit, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Neuhaus, Thomas. Children's Hospital of Lucerne, Lucerne, Switzerland
    • Nef, Samuel. Pediatric Nephrology Unit, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Bresin, Elena. Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Ranica, Bergamo, Italy
    • Zingg-Schenk, Andrea. Pediatric Nephrology Unit, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    • Spartà, Giuseppina. Pediatric Nephrology Unit, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    Dokumententyp
    • Postprint
    Sprache
    • Englisch
    Veröffentlicht in
    • Pediatric Nephrology, 2013, vol. 28, no. 7, p. 1141-1144. Springer-Verlag
    Andere elektronische Ausgabe
    Klassifikation
    • Gesundheit
    OAI-PMH-ID
    • oai:doc.rero.ch:320892
    Summary
    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 9months carrying combined heterozygous mutations in the CFI and MCP genes. At the age of 5years, he underwent isolated cadaveric renal transplantation. Fresh frozen plasma was administered during and after transplantation, tapered and finally stopped after 3years. 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