TY - JOUR
T1 - 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
AU - Pabst, Werner Lukas
AU - Neuhaus, Thomas J.
AU - Nef, Samuel
AU - Bresin, Elena
AU - Zingg-Schenk, Andrea
AU - Spartà, Giuseppina
PY - 2013/7
Y1 - 2013/7
N2 - 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
AB - 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
UR - http://www.scopus.com/inward/record.url?scp=84878650507&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84878650507&partnerID=8YFLogxK
U2 - 10.1007/s00467-013-2450-7
DO - 10.1007/s00467-013-2450-7
M3 - Article
C2 - 23519521
AN - SCOPUS:84878650507
VL - 28
SP - 1141
EP - 1144
JO - Pediatric Nephrology
JF - Pediatric Nephrology
SN - 0931-041X
IS - 7
ER -