Fenotype genotype correlation in children with Familial Mediterranean fever

FMF is a recurrent ilnesses that is presented with fever, polyserositis, arthritis and rash. Although it is diagnosed by clinical findings, there are also some supportive criteria including family history, ethnic background, gene mutation, response to colchicines treatment, high acute phase reactants. Many reaserches on genotype-phenotype relationship have been carried out following determination of MEFV gene in 1997. Even though in some of these researches it was stated that genotype has some reflection to phenotype, in other researches it was reported that no relationship was found between genotype and phenotype.In our study 55 boys and 50 girls totally 105 patients have were examined for clinical charecteristics, MEFV gene mutation type and genotype-phenotype relationship. The most observed symptoms were fever (100%), abdominal pain (99%), arthralgia (61.5%). Arthralgia frequency was significantly high in boys. Study group children previously have been diagnosed as urinary tract infection, parasitosis, constipation, gastritis and tonsillitis due to same complaints that lead us to make FMF diagnosis. When our patients were evaluated according to their ilnesses severity score 71.4% of them were in the group of moderate severe ilnesses. When acute phase reactants were evaluated at the time of attack; in 52% of the patients had high sedimentation rate, in 65.7% of the patients had high CRP level, in 62.9% of the patients had high leukocytes and fibrinogen level . The most frequently mutation type in our study group wasE148Q; second most frequently mutation was M694V. Genotype distrubion was evaluated E148Q/N genotype was found as the most frequent genotype, V726A was second, M694V/N was third primary and M694V/M694V was the fifth primary. A total of 5.7% of our patients was diagnosed as acute appendicitis, and %3.8 of patients underwent surgical operation. Our patients were grouped according to MEFV gene mutation as homozygote, compaund heterozygote and heterozygote carriers and they were evaluated according to phenotype and genotype relationship. Age and mean of age beginning of the symptoms in the homozygote group was lower compared with heterozygote and compaund heterozygote groups. In homozygote group presence of erisipelas like erythema and leucocytosis in attack period was found to be higher than in other two groups. We found no difference between homozygote, compaund heterozygote and heterozygote groups; delay in diagnosis, father and mother consanguinity, the existence of fever, abdominal pain, arthralgia, arthritis, chest pain, myalgia, acute scrotum, frequency and duration of attack, ilnesses severity score, ESR, CRP and fibrinogen levels during attack and out of attack and response to colchicines treatment.Key words: Familial mediterranean fever, mutation, phenotype-genotype correlation