Mediterranean Fever (MEFV) Gene Variants in Kawasaki Disease in Turkish Children: Do They Influence the Disease...

Kawasaki Disease (KD) is a type of systemic vasculitis mediated by an abnormal immune response, similar to autoinflammatory disorders, due to increased release of proinflammatory cytokines. This cross-sectional study aims to evaluate the relationship between the frequency and severity of KD and the presence of Mediterranean Fever (MEFV) gene variants.

Thirty-eight children diagnosed with KD were included in the study. Demographic and clinical data such as age at diagnosis, gender, and duration of fever prior to intravenous immunoglobulin (IVIG) treatment were recorded. Laboratory and echocardiographic data at the time of diagnosis were also retrospectively reviewed. MEFV gene analysis was performed for all patients.

The study comprised 38 patients, including 25 boys (65.8%) and 13 girls (34.2%), with a median age of 3.4 years (range 1.8-6.3 years). Coronary arterial lesions were observed in 11 patients (28.9%), and 13 patients (34.2%) were resistant to initial IVIG treatment. Twenty-two patients (57.9%) had at least one allele with MEFV variants. Of these, eight patients (36% of MEFV-positive patients) had at least one exon-10 variant, while 14 patients had only exon-2 variants. No statistically significant differences were found in clinical, demographic, or echocardiographic parameters between MEFV-positive and MEFV-negative patients.

This study found that the presence of MEFV gene variants in KD patients is almost three times higher compared to the general Turkish population. This relationship warrants further clarification through nationwide studies, especially in countries where Familial Mediterranean Fever (FMF) is a significant concern.