Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study

dc.authoridEren, Makbule/0000-0002-7105-7165
dc.authoridARTAN, REHA/0000-0001-6114-9210
dc.authoridBaran, Masallah/0000-0003-3827-2039
dc.authoridARSLAN, DURAN/0000-0002-1906-7999
dc.authoridDOGAN, YASAR/0000-0001-9738-9611
dc.contributor.authorUrganci, Nafiye
dc.contributor.authorOzgenc, Funda
dc.contributor.authorKuloglu, Zarife
dc.contributor.authorYuksekkaya, Hasan
dc.contributor.authorSari, Sinan
dc.contributor.authorErkan, Tulay
dc.contributor.authorOnal, Zerrin
dc.date.accessioned2025-01-21T16:41:09Z
dc.date.available2025-01-21T16:41:09Z
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 hos 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 hove a high impact on inflammatory response and clinical outcome of the disease.
dc.identifier.doi10.5152/tjg.2021.20057
dc.identifier.endpage260
dc.identifier.issn2148-5607
dc.identifier.issue3
dc.identifier.pmid34160354
dc.identifier.startpage248
dc.identifier.urihttps://doi.org/10.5152/tjg.2021.20057
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24823
dc.identifier.volume32
dc.identifier.wosWOS:000667494100003
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
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; MEFV; mutation analysis; inflammatory bowel disease
dc.titleFamilial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study
dc.typeArticle

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