Abstract:

Purpose: Repeated fever polyserotic attacks in the family Mediterranean fever clinic are caused by the uncontrollable release of interlökin 1-β associated with mutations in the MEFV gene, and the course of the disease can vary according to mutations. This study aims to assess the impact of R202Q genetic change on clinical and laboratory findings. Instrument and method: the demographic, clinical and laboratory data of 122 pediatric AAA patients are compared. Patients, according to MEFV mutations, compared the R202Q change to those with heterocygote, homocygote, exon-10 mutations and composite heterocygote and only those with exon-10 mutations. Results: When evaluated in terms of demographic, anthropometric, clinical and laboratory findings, no statistically meaningful differences between the groups were found. Results: Patients with R202Q genetic modification can also observe typical AAA clinical findings, such as patients with exon 10 mutations. Family Mediterranean fever is a disease that needs to be evaluated together with genotypical and phenotypical characteristics.

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