POS-418 HOMOZYGOUS MUTATION IN COMPLEMENT C3 GENE ASSOCIATED WITH FAMILIAL HEMOLYTIC UREMIC SYNDROME: CASE SERIES

Abstract

Atypical hemolytic syndrome (aHUS) is a rare renal disease. It has been recognized to be due to genetic mutations in more than 60 % of cases. Its pathogenesis has been characterized to be secondary to Alternative complement pathway dysregulation. We aim to report the genotypic and phenotypic features of homozygous mutation in C3 gene in three infants in three different families from the same tripe. We will go through their early sever presentations, courses, responses to treatment with anti-C5 monoclonal antibody, and their current conditions.