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^{İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi 1Pediatrik Gastroenteroloji, Hepatoloji ve Beslenme Uzmanı, 3Pediatri Profesörü, 4Halk Sağlığı Profesörü; Medical University of Vienna and Research Center for Molecular Medicine of the Austrian Academy of Sciences (CeMM) 2Pediatri Profesörü
*İletişim: ofbeser@gmail.com} In our study, we aimed to determine the presence of interleukin-10 (IL-10) receptor resistance gene mutations as a cause of inflammatory bowel disease (IBD) in children aged 0-18 years with a diagnosis of IBD by genetic analysis and to compare patients with versus without IL-10 receptor mutation in terms of demographic, clinical and laboratory findings and treatment response based on the follow-up findings. In our study, genotype analysis was performed to determine the presence of IL-10 and/or IL-10 receptor mutations in 53 patients with a diagnosis of IBD. When a mutation was found in the family, other family members were also compared regarding those gene locations. Based on previous genetic studies, the potential gene regions in which mutations were found were separated and selected. Mutation screening of the IL-10, IL-10RA and IL-10RB genes was done in these selected regions. Gene-specific and protein-specific tests were done to determine the functional effects of the mutations defined on the IL-10 signal pathway. Consanguinity between parents, early age of onset and a course of Crohn’s disease were statistically significantly different in the patients who were found to have a mutation on the IL-10 pathway compared to those with no mutation (p=0.014, p=0.005, p<0.001, respectively). While perianal fistula was found in 100% of the patients who had mutation, it was found in only 14.9% of those with no mutation (p<0.001). It was found that weight- and height-for-age Z scores were statistically significantly lower in the IL-10 mutation-positive group (p<0.001, p<0.001, respectively). It was determined that azathioprine and anti-tumor necrosis factor (TNF) antibody treatments were used more frequently in the patients with mutation compared to those with no mutation, and remission times were statistically significantly longer in the IL-10 mutation-positive group compared to the IL-10 mutation-negative group (p<0.001). We believe that genetic mutations, mainly including IL-10, may have a greater impact on disease occurrence in early-onset IBD in the childhood age group. When a mutation is determined on the IL-10 signal pathway, the disease onset is at an earlier age, the prognosis is severe and response to treatment is poor. Anahtar Kelimeler : enflamatuar bağırsak hastalığı, IL-10, IL-10RA, IL-10RB.