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

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dc.contributor.authorTUTAR, ENGİN
dc.contributor.authorsUrganci, Nafiye; Ozgenc, Funda; Kuloglu, Zarife; Yuksekkaya, Hasan; Sari, Sinan; Erkan, Tulay; Onal, Zerrin; Caltepe, Gonul; Akcam, Mustafa; Arslan, Duran; Arslan, Nur; Artan, Reha; Aydogan, Aysen; Balamtekin, Necati; Baran, Masallah; Baysoy, Gokhan; Cakir, Murat; Dalgic, Buket; Dogan, Yasar; Durmaz, Ozlem; Ecevit, Cigdem; Eren, Makbule; Gokce, Selim; Gulerman, Fulya; Gurakan, Figen; Hizli, Samil; Isik, Ishak; Kalayci, Ayhan Gazi; Kansu, Aydan; Kutlu, Tufan; Karabiber, Hamza; Kasirga, Erhun; Kutluk, Gunsel; Hosnut, Ferdag Ozbay; Ozen, Hasan; Ozkan, Tanju; Ozturk, Yesim; Soylu, Ozlem Bekem; Tutar, Engin; Tumgor, Gokhan; Unal, Fatih; Ugras, Meltem; Ustundag, Gonca; Yaman, Aytac
dc.date.accessioned2022-03-12T22:59:31Z
dc.date.available2022-03-12T22:59:31Z
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 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.eissn2148-5607
dc.identifier.pubmed34160354
dc.identifier.urihttps://hdl.handle.net/11424/237320
dc.identifier.wosWOS:000667494100003
dc.language.isoeng
dc.publisherAVES
dc.relation.ispartofTURKISH JOURNAL OF GASTROENTEROLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectChildren
dc.subjectfamilial Mediterranean fever
dc.subjectMEFV
dc.subjectmutation analysis
dc.subjectinflammatory bowel disease
dc.subjectMEFV GENE-MUTATIONS
dc.subjectACTIVITY INDEX
dc.subjectULCERATIVE-COLITIS
dc.subjectTURKISH CHILDREN
dc.subjectASSOCIATION
dc.subjectSEVERITY
dc.subjectDISORDERS
dc.subjectFREQUENCY
dc.subjectCHILDHOOD
dc.subjectMODIFIER
dc.titleFamilial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study
dc.typearticle
dspace.entity.typePublication
local.avesis.id3e0e7102-4096-4bc3-84e5-0596aa7867ac
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages13
oaire.citation.endPage260
oaire.citation.issue3
oaire.citation.startPage248
oaire.citation.titleTURKISH JOURNAL OF GASTROENTEROLOGY
oaire.citation.volume32
relation.isAuthorOfPublicatione74e1cee-fddd-4298-8535-e230e98dfe3c
relation.isAuthorOfPublication.latestForDiscoverye74e1cee-fddd-4298-8535-e230e98dfe3c

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