RESUMEN
Objective: The study aims to detect repetitive genotype in children with Familial Mediterranean Fever [FMF] campaign in Syria, as some genotypes associated with worst prognosis
Methods: A retrospective study on patients with FMF symptoms with positive genotyping was done during six years [from 2006 until 2012] in the pediatric gastroenterology and nutrition clinic in Damascus. Genotyping includes: Category I [confirmed FMF]: Type 1: Homozygote. Type 2: Multi Homozygote. Type 3: Multi Heterozygote. Category II include simple Heterozygote
Results: The total number of included patients in the study was 27 patients, age from 2 and 12 years [mean age 6years], male/female ratio is 2: I, 16 are from the category I, and 11 from category II. Thirteen out of 27 [46.6%] patients were positive E148Q genotype, in the first category the most common genotype was M694V [4 out of 11, 36.4%]. In case of heterozygote, the most common simple genotype is E148Q [9 cases]. M694Vwas the most common genotype in the first category [7 out of 16]
Conclusions: M694V, was the most common genotype in Familial Mediterranean Fever [FMF] cases, and further studies are needed to confirm this result