Research Information System
Pamukkale Medical Journal, vol.14, no.4, pp.870-877, 2021 (Scopus)
Purpose: Recurrent febrile polyserositis attacks of familial Mediterranean fever are caused by uncontrolled interleukin 1-β release due to mutations in the MEFV gene and the course of the disease may vary according to mutations. In this study, it was aimed to evaluate the effect of R202Q genotypes on clinical and laboratory findings. Materials and methods: Demographic, clinical and laboratory data of 122 pediatric FMF patients were compared. The patients were grouped according to the MEFV mutations as heterozygous and homozygous R202Q, compound heterozygous with exon-10 mutations and R202Q genotypes, and those with only exon-10 mutations compared. Results: In terms of demographic, anthropometric, clinical and laboratory findings, there was no statistically significant difference between the groups. Conclusion: Typical clinical findings can be observed in patients with R202Q gene alterations, as in patients with exon 10 mutations. Familial Mediterranean fever is a disease that should be evaluated together with its genotypic and phenotypic characteristics.