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

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 mut...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2013-07, Vol.28 (7), p.1141-1144
Main Authors: Pabst, Werner Lukas, Neuhaus, Thomas J., Nef, Samuel, Bresin, Elena, Zingg-Schenk, Andrea, Spartà, Giuseppina
Format: Article
Language:English
Subjects:
Age
Atypical Hemolytic Uremic Syndrome
Biopsy
Blood Component Transfusion
Brief Report
Child
Complement Factor I - genetics
Disease
Gene mutations
Genes
Genetic Predisposition to Disease
Graft Survival
Haplotypes
Hemolytic-Uremic Syndrome - genetics
Hemolytic-Uremic Syndrome - surgery
Heterozygote
Humans
Immunosuppressive Agents - therapeutic use
Kidney Transplantation
Kidney transplants
Kidneys
Male
Medicine
Medicine & Public Health
Membrane Cofactor Protein - genetics
Mutation
Nephrology
Patients
Pediatrics
Phenotype
Plasma
Proteins
Streptococcus infections
Thrombocytopenia
Time Factors
Transplantation
Treatment Outcome
Urology
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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 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
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-013-2450-7