Familial mediterranean fever mutation analysis in pediatric patients with İnflammatory Bowel Disease: A multicenter study

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dc.contributor.authorUrganci, Nafiye
dc.contributor.authorOzgenc, Funda
dc.contributor.authorKulo?lu, Zarife
dc.contributor.authorYüksekkaya, Hasan
dc.contributor.authorSari, Sinan
dc.contributor.authorErkan, Tülay
dc.contributor.authorÖnal, Zerrin
dc.date.accessioned2025-01-21T16:27:38Z
dc.date.available2025-01-21T16:27:38Z
dc.date.issued2021
dc.departmentKırıkkale Üniversitesi
dc.description.abstractBackground: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. Methods: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. Results: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). Conclusion: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease. Copyright © 2021 by The Turkish Society of Gastroenterology.
dc.identifier.doi10.5152/tjg.2021.20057
dc.identifier.endpage260
dc.identifier.issn1300-4948
dc.identifier.issue3
dc.identifier.pmid34160354
dc.identifier.scopus2-s2.0-85108076021
dc.identifier.scopusqualityQ3
dc.identifier.startpage248
dc.identifier.trdizinid510127
dc.identifier.urihttps://doi.org/10.5152/tjg.2021.20057
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/510127
dc.identifier.urihttps://hdl.handle.net/20.500.12587/23382
dc.identifier.volume32
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAVES
dc.relation.ispartofTurkish Journal of Gastroenterology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectChildren; Familial mediterranean fever; Inflammatory bowel disease; MEFV; Mutation analysis
dc.titleFamilial mediterranean fever mutation analysis in pediatric patients with İnflammatory Bowel Disease: A multicenter study
dc.typeArticle

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