MEFV mutations in systemic onset juvenile idiopathic arthritis

Ayaz, Nuray Aktay; Özen, Seza; Bilginer, Yelda; Erguven, Muferret; Taşkıran, Ekim Z.; Yılmaz, Engin; Beşbaş, Nesrin; Topaloğlu, Rezan; Bakkaloğlu, Ayşı̇n

doi:10.1093/rheumatology/ken409

Cited by 71 publications

(53 citation statements)

References 13 publications

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“…Other inflammatory diseases including IBD accompany FMF with a gradually increasing frequency. In addition, the frequency of other inflammatory diseases (including juvenile rheumatoid arthritis) increases in conditions where IBD accompanies FMF (10)(11)(12). The fact that MEFV gene mutations are found with an increasing frequency in these inflammatory diseases supports this (13).…”

Section: Introductionmentioning

confidence: 87%

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: Introductionmentioning

confidence: 87%

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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“…Основанием для этого стало наличие общих клинико-лабораторных проявлений СЮА и ряда моногенных АВЗ, особенно CAPS, и вполне обоснованным явилось предположение, что у ряда пациен-тов под маской СЮА скрываются эти заболевания. Осуще-ствлялись попытки выявления каких-либо мутаций у паци-ентов с СЮА, они представлены в отдельных зарубежных публикациях, а в России пока эксклюзивны [12][13][14]. Экс-пертами в области изучения АВЗ для их идентификации предложены алгоритмы диагностики, включающие клини-ческие классификационные критерии, рекомендации по лечению [15][16][17][18][19].…”

Section: с о в P E м е н н а я р е в м а т о л о г и я № 3 ' 1 7 о р unclassified

“…Генетического подтверждения эта идея пока не нашла. Тем не менее в ряде работ показано, например, что у боль-ных СЮА, обнаруживались мутации в гене MEFV, ответст-венном за развитие семейной средиземноморской лихорад-ки (FMF) [12,13]. Исследования мутаций в генах NLRP3, TNFRSF1A, MVK у больных СЮА пока единичны [12][13][14].…”

Section: п о л и м о р ф и з м ы в ы я в л е н н ы е у п а ц и е н unclassified

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

Салугина¹,

Kamenets²,

Федоров³

et al. 2017

RJTAO

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Аутовоспалительные заболевания (АВЗ) интенсивно изучаются. Большое значение для диагностики АВЗ имеет молекуляр-но-генетическое тестирование пациентов, поскольку основой развития АВЗ являются патологические мутации, обуслов-ливающие нарушения в системе врожденного (антиген-неспецифического) иммунитета и развитие воспаления. Это каса-ется и пациентов с системным ювенильным артритом (СЮА (М -9,0 лет [5; 15]), длительность заболевания -от 2 мес до 54 лет (М -3,0 года [1,0; 8,5] Результаты. У 43 (23,4%) обследованных выявлены 15 вариантов патогенных мутаций в изучаемых генах: у 31 (16,8%) больно-го -в NLRP3, у 10 (5,4%) -в TNFRSF1A (в гетерозиготном состоянии) и у 2 (1,1%) -в MVK (в компаунд-гетерозиготном состоянии). В группе АВЗ мутации обнаружены у 31 (26,5%) пациента: у 24 (20,5%) -в NLRP3, у 1 (0,9%) -в MVK, у 6 (5,1%) -в TNFRSF1A. В группе CЮА мутации имелись у 12 (17,9%) больных: у 7 (10,4%) -в NLRP3, у 1 (1,5%) -в MVK и у 4 (5,9%) -в TNFRSF1A. Наиболее частыми мутациями в гене NLRP3 были миссенс-замена c. 1049C>T (p.T350M), выявленная у 7 (25,9%) пациентов, а также мутация низкой пенетрантности с. 2113C>A (р.Q705K), обнаруженная у 13 (28,3%) пациентов. В резуль-тате обследования были установлены генетические диагнозы: CAPS -у 19 (10,3%) пациентов, TRAPS -у 9 (4,9%), HIDS -у 2 (1,1%

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“…Shimizu et al [3] first reported the heterozygous mutation of the Mediterranean fever (MEFV) gene in an adolescent with CRMO and only then began treatment with colchicine. The presence of this mutation is also highly prevalent in Henoch-Schönlein purpura (HSP), [4] Behçet's disease (BD), [5] ankylosing spondylitis (AS), [6] systemic onset juvenile idiopathic arthritis (SoJIA), [7] and even in fibromyalgia. [8] However, in cases involving these conditions, the clinical significance of this association is unknown, and studies with a larger sample size need to be conducted.…”

Section: Author's Replymentioning

confidence: 99%

Colchicine as a Possible Alternative Treatment for Chronic Recurrent Multifocal Osteomyelitis

Alpaycı¹

2013

Turk J Rheumatol

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MEFV mutations in systemic onset juvenile idiopathic arthritis

Abstract: SoJIA patients had a significantly higher frequency of MEFV mutations but clinical studies with large number of patients are needed to confirm the association of MEFV mutations with SoJIA and its course.

Cited by 71 publications

References 13 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

Results of molecular genetic screening of mutations in the NLRP3, TNFRSF1A, and MVK genes in patients with autoinflammatory diseases and systemic juvenile arthritis

Colchicine as a Possible Alternative Treatment for Chronic Recurrent Multifocal Osteomyelitis

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