The Association of Inflammatory Bowel Disease and Mediterranean Fever Gene (MEFV) Mutations in Turkish Children

Uslu, Nuray; Yüce, Aysel; Demır, Hülya; Saltık-Temizel, İnci Nur; Usta, Yusuf; Yılmaz, Engin; Beşbaş, Nesrin; Gürakan, Figen; Özen, Hasan; Özen, Seza

doi:10.1007/s10620-010-1178-5

Cited by 45 publications

(58 citation statements)

References 28 publications

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“…Since both epidemiological and clinical data suggest that MEFV may be a potential IBD gene, FMF and IBD carry very similar clinical and biological properties and IBD frequently accompanies FMF (16). FMF accompanied IBD in 14 (26.4%) of our patients.…”

Section: Discussionmentioning

confidence: 75%

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Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

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Aim: Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to compare the demographic, clinical, laboratory and treatment response properties in these patients with the ones in other IBD patients and to determine association of FMF especially in treatment-resistant patients. Material and Methods:Fifty-three patients who were being followed up with a diagnosis of IBD aged between 0 and 18 years were included in the study. The patient group included the patients who were diagnosed with IBD according to clinical, serological, endoscopic and histopathological criteria, who were being followed up and whose therapies were continuing. Genetic analysis in terms of MEFV gene mutations was performed in all patients with a diagnosis of IBD. Acute phase reactants, complete blood count, immunoglobulin levels, stool analysis, "perinuclear anti-neutrophil cytoplasmic antibodies" (pANCA) and "anti-Saccharomyces cerevisiae antibodies" (ASCA) were studied at the time of diagnosis. The diagnosis of FMF was made according to detailed history, physical examination findings, laboratory tests and the results of genetic analyses in terms of MEFV gene mutations in accordance with the criteria defined in 2009. Results:We found that FMF accompanied in 14 (26.4%) of the patients who had a diagnosis of IBD. 3 of these 14 patients in whom FMF accompanied were being followed up with a diagnosis of Crohn disease and 11 were being followed up with a diagnosis of ulcerative colitis. All of these patients had MEFV gene mutation. These mutations included M694V (50%), K695R (21.4%), M680I (14.3%) and R202Q (14.3%) in order of frequency. When the laboratory data were compared between the patients who had a diagnosis of IBD alone and who had a diagnosis of IBD plus FMF, it was observed that the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were statistically significantly higher in the IBD+FMF group.Conclusions: FMF is a common condition in the Turkish population and M694V mutation is found most commonly. In our study, this status did not change in cases where FMF accompanied IBD, but K695R mutation was found more frequently compared to FMF alone. We think that it should be kept in mind that other inflammatory conditions including mainly FMF may accompany IBD, if a case of IBD does not have an expected course or is resistant to treatment. (Türk Ped Arş 2014; 49: 198-202)

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Section: Discussionmentioning

confidence: 75%

“…Association of Crohn disease and FMF has been elucidated better with genetic studies conducted in years and the mutations found. In a study in which 33 patients with IBD (16 UC, 14 CD and 3 indeterminate colitis), a diagnosis of FMF was made in 21.2% of the patients and it was found that FMF accompanied CD with a higher rate (28.6%) (16 …”

Section: Discussionmentioning

confidence: 99%

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

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“…In a new study of Turkish children with IBD, Uslu et al 116 found that disease-causing MEFV mutations and FMF disease rate were increased in these patients. The increase was prominent among patients with CD, whereas in UC, the rate was similar to the Turkish healthy control population.…”

Section: Inflammatory Bowel Diseasementioning

confidence: 98%

Familial Mediterranean fever—A review

Shohat

Halpern

2011

Genetics in Medicine

154

113

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“…Uslu et al showed increased disease-causing MEFV mutations in IBD patients, especially in those with CD. These authors concluded that the presence of a defective MEFV gene might increase the inflammatory response in IBD [7]. Fidder et al compared seven concomitant CD-FMF patients versus 20 FMF patients and reported CD-FMF patients having more frequent proteinuria suggestive of amyloidosis than the patients with only FMF (43 vs. 5 %, respectively; p<0.02) [8].…”

Section: Commentarymentioning

confidence: 99%

Proteinuria in a Crohn’s disease patient: Answers

et al. 2014

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The Association of Inflammatory Bowel Disease and Mediterranean Fever Gene (MEFV) Mutations in Turkish Children

Abstract: Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.

Cited by 45 publications

References 28 publications

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Familial Mediterranean fever—A review

Proteinuria in a Crohn’s disease patient: Answers

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