Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background and aim: Familial mediterranean fever and systemic lupus erythematosus are both chronic diseases with common symptoms. Familial mediterranean fever is the most common auto-inflammatory monogenic disease affecting people of the Mediterranean basin. Systemic lupus is a chronic multisystem autoimmune connective tissue disorder that manifests itself with different phenotypes. It has been observed in the rheumatology clinic at Abu Reesh Hospital that the incidence of Juvenile SLE is more common than previously believed. The aim of the study was to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with SLE. Finding an association between SLE and FMF in Egyptian children may lead to a change in the treatment regimens of the patients and the criteria of diagnosis for Egyptian SLE patients and therefore better disease outcome. Methods: The study enrolled 60 children diagnosed with systemic lupus, together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for the 12 most common MEFV mutations using reverse hybridization assay of biotinylated PCR products. Results: SLE patients had a significantly higher frequency of MEFV mutations (76.7%) than in the healthy control population (30%). V726A was the leading mutation in SLE patients, with allele frequency of 52.2%, followed by E148Q with allele frequency of 23.9%. While in the control group, the leading allele frequency was E148Q and V726A 13.3% each

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