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

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dc.contributor.authorUrganci N.
dc.contributor.authorOzgenc F.
dc.contributor.authorKuloǧlu Z.
dc.contributor.authorYüksekkaya H.
dc.contributor.authorSari S.
dc.contributor.authorErkan T.
dc.contributor.authorÖnal Z.
dc.contributor.authorÇaltepe G.
dc.contributor.authorAkçam M.
dc.contributor.authorArslan D.
dc.contributor.authorArslan N.
dc.contributor.authorArtan R.
dc.contributor.authorAydoǧan A.
dc.contributor.authorBalamtekin N.
dc.contributor.authorBaran M.
dc.contributor.authorBaysoy G.
dc.contributor.authorÇakir M.
dc.contributor.authorDalgiç B.
dc.contributor.authorDoǧan Y.
dc.contributor.authorDurmaz O.
dc.contributor.authorEcevit C.
dc.contributor.authorEren M.
dc.contributor.authorGökçe S.
dc.contributor.authorGülerman F.
dc.contributor.authorGürakan F.
dc.contributor.authorHizli S.
dc.contributor.authorIşik I.
dc.contributor.authorKalayci A.G.
dc.contributor.authorKansu A.
dc.contributor.authorKutlu T.
dc.contributor.authorKarabiber H.
dc.contributor.authorKasirga E.
dc.contributor.authorKutluk G.
dc.contributor.authorHoşnut F.O.
dc.contributor.authorÖzen H.
dc.contributor.authorÖzkan T.
dc.contributor.authorÖztürk Y.
dc.contributor.authorSoylu O.B.
dc.contributor.authorTutar E.
dc.contributor.authorTümgör G.
dc.contributor.authorÜnal F.
dc.contributor.authorUgraş M.
dc.contributor.authorÜstündaǧ G.
dc.contributor.authorYaman A.
dc.date.accessioned2024-07-22T08:06:09Z
dc.date.available2024-07-22T08:06:09Z
dc.date.issued2021
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.DOI-ID10.5152/tjg.2021.20057
dc.identifier.issn13004948
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13387
dc.language.isoEnglish
dc.publisherAVES
dc.rightsAll Open Access; Green Open Access
dc.subjectAdolescent
dc.subjectChild
dc.subjectColitis, Ulcerative
dc.subjectCrohn Disease
dc.subjectFamilial Mediterranean Fever
dc.subjectHumans
dc.subjectInflammatory Bowel Diseases
dc.subjectMutation
dc.subjectazathioprine
dc.subjectmesalazine
dc.subjectprotein concentrate plus carbohydrates plus lipids plus minerals plus vitamins
dc.subjectpyrin
dc.subjectsteroid
dc.subjectadolescent
dc.subjectadult
dc.subjectArticle
dc.subjectchild
dc.subjectclinical outcome
dc.subjectcolonoscopy
dc.subjectcontrolled study
dc.subjectCrohn disease
dc.subjectdigestive system disease assessment
dc.subjectdisease activity
dc.subjectdisease classification
dc.subjectdisease course
dc.subjectfamilial Mediterranean fever
dc.subjectfemale
dc.subjectgene mutation
dc.subjectheterozygote
dc.subjecthistopathology
dc.subjecthomozygote
dc.subjecthuman
dc.subjecthuman cell
dc.subjecthuman tissue
dc.subjectindeterminate colitis
dc.subjectinflammatory bowel disease
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectMEFV gene
dc.subjectmulticenter study (topic)
dc.subjectmutational analysis
dc.subjectpediatric patient
dc.subjectPediatric Ulcerative Colitis Activity Index
dc.subjectpreschool child
dc.subjectproctocolitis
dc.subjectretrospective study
dc.subjectschool child
dc.subjectTurk (people)
dc.subjectulcerative colitis
dc.subjectclinical trial
dc.subjectCrohn disease
dc.subjectgenetics
dc.subjectinflammatory bowel disease
dc.subjectmulticenter study
dc.subjectmutation
dc.subjectulcerative colitis
dc.titleFamilial mediterranean fever mutation analysis in pediatric patients with İnflammatory Bowel Disease: A multicenter study
dc.typeArticle

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