The presence of more than one mutation in the genes that encode different components of the complement cascade influences the clinical phenotype of atypical haemolytic uraemic syndrome (aHUS), say researchers. Bresin et al. identified combined mutations in 3% of 795 patients with aHUS. The combined presence of mutations in CFH and MCP significantly increased disease penetrance compared with the effect of one risk haplotype. Kidney transplant outcomes were also worse for patients with a combined MCP mutation than for those with an isolated MCP mutation.
ORIGINAL RESEARCH PAPER
Bresin, E. et al. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J. Am. Soc. Nephrol. doi:10.1681/ASN.2012090884
Rights and permissions
About this article
Cite this article
Effect of combined complement gene mutations on aHUS clinical phenotype. Nat Rev Nephrol 9, 186 (2013). https://doi.org/10.1038/nrneph.2013.24
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrneph.2013.24
