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

Atypical hemolytic syndrome (aHUS) is a rare renal disease. It has been recognized to be due genetic mutations in more than 60 % of cases. Its pathogenesis characterized secondary Alternative complement pathway dysregulation. We aim report the genotypic and phenotypic features homozygous mutation C3 gene three infants different families from same tripe. will go through their early sever presentations, courses, responses treatment with anti-C5 monoclonal antibody, current conditions. retrospectively did detailed chart review that follow up pediatric nephrology unit Prince Sultan Military Medical City as cases familial aHUS gene. highlighted initial clinical hematological biochemical abnormalities, course diseases, well satisfactory immediate both induction maintenance dosages antibody. Patient 1 Saudi girl who product uneventful pregnancy for first-degree cousin. She was admitted at age four-month sepsis picture, found have picture uremic episode low hemoglobin platelets high creatinine Lactate dehydrogenase (LDH). transferred our center immediately started on doses antibody (Eculizumab). As she not vaccinated, maintained prophylactic antibiotic. Her low. showed dramatic response normalization her serum creatinine, Platelets count, Hemoglobin, LDH. regular every two week. monitored regularly, continues level Complement CH50 indicator proper suppression system. Genetic testing shows variant c.3326T>G p. (Leu1109Arg). 2 & 3 or less similar presentation before first birthdays chest infection precipitate episode. Both were laboratory parameters respond dramatically dose Eculizumab, it after weeks. testing's show exact patient 1. Interestingly, all persistently during flaring remission diseases. Homozygous resulting atypical can an devastating course, but fortunately its Anti-C excellent. Larger sample size study prospective design definitely needed better characterization disease potential complication prolonged C5 inhibition.