Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are
necessary for the disease to manifest. Here, we sought to describe genotype–phenotype
correlations among patients with combined mutations, defined as mutations in more than
one complement gene. We screened 795 patients with aHUS and identified single mutations
in 41% and combined mutations in 3%. Only 8%–10% of patients with mutations in CFH, C3 …
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are
necessary for the disease to manifest. Here, we sought to describe genotype–phenotype
correlations among patients with combined mutations, defined as mutations in more than
one complement gene. We screened 795 patients with aHUS and identified single mutations
in 41% and combined mutations in 3%. Only 8%–10% of patients with mutations in CFH, C3 …
