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Turkish Journal of Gastroenterology

35 414 2024

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Gastrointestinal Tract - Original Article

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

Nafiye Urgancı ¹ , Funda Ozgenc ² , Zarife Kuloğlu ³ , Hasan Yüksekkaya ⁴ , Sinan Sarı ⁵ , Tülay Erkan ⁶ , Zerrin Önal ⁷ , Gönül Çaltepe ⁸ , Mustafa Akçam ⁹ , Duran Arslan ¹⁰ , Nur Arslan ¹¹ , Reha Artan ¹² , Ayşen Aydoğan ¹³ , Necati Balamtekin ¹⁴ , Maşallah Baran ¹⁵ , Gökhan Baysoy ¹⁶ , Murat Çakır ¹⁷ , Buket Dalgıç ⁵ , Yaşar Doğan ¹⁸ , Özlem Durmaz ¹⁹ , Çiğdem Ecevıt ²⁰ , Makbule Eren ²¹ , Selim Gökçe ²² , Fulya Gülerman ²³ , Figen Gürakan ²⁴ , Samil Hızlı ²⁵ , Ishak Işık ²⁶ , Ayhan Gazi Kalaycı ⁸ , Aydan Kansu ³ , Tufan Kutlu ⁶ , Hamza Karabiber ²⁷ , Erhun Kasırga ²⁸ , Günsel Kutluk ⁷ , Ferdağ Özbay Hoşnut ²⁹ , Hasan Özen ³⁰ , Tanju Özkan ³¹ , Yeşim Öztürk ¹¹ , Özlem Bekem Soylu ²⁰ , Engin Tutar ³² , Gökhan Tümgör ³³ , Fatih Ünal ³⁴ , Meltem Ugraş ³⁵ , Gonca Üstündağ ³⁶ , Aytaç Yaman ³⁷ , Turkish IBD Study Group ³⁸

Author Affiliation(s)

1.

Division of Pediatric Gastroenterology, Health Sciences University, Şişli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey

2.

Department of Pediatric Gastroenterology, Ege University School of Medicine, İzmir, Turkey

3.

Department of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Turkey

4.

Department of Pediatric Gastroenterology, Meram University School of Medicine, Konya, Turkey

5.

Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey

6.

Department of Pediatric Gastroenterology, İstanbul University-Cerrahpaşa, Cerrahpaşa School of Medicine, Istanbul, Turkey

7.

Division of Pediatric Gastroenterology, Health Sciences University Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey

8.

Department of Pediatric Gastroenterology, Ondokuz Mayis University School of Medicine, Samsun, Turkey

9.

Department of Pediatric Gastroenterology, Süleyman Demirel University School of Medicine, Isparta, Turkey

10.

Department of Pediatric Gastroenterology, Erciyes University School of Medicine, Kayseri, Turkey

11.

Department of Pediatric Gastroenterology, Dokuz Eylul University School of Medicine, İzmir, Turkey

12.

Department of Pediatric Gastroenterology, Akdeniz University School of Medicine, Antalya, Turkey

13.

Department of Pediatric Gastroenterology, Kocaeli University School of Medicine, Kocaeli, Turkey

14.

Division of Pediatric Gastroenterology, Health Sciences University, Gulhane Training and Research Hospital, Ankara, Turkey

15.

Division of Pediatric Gastroenterology, Health Sciences University, Tepecik Training and Research Hospital, İzmir, Turkey

16.

Department of Pediatric Gastroenterology, Dicle University School of Medicine, Diyarbakır, Turkey

17.

Department of Pediatric Gastroenterology, Karadeniz University School of Medicine, Trabzon, Turkey

18.

Department of Pediatric Gastroenterology, Fırat University School of Medicine, Elazığ, Turkey

19.

Department of Pediatric Gastroenterology, İstanbul University, İstanbul School of Medicine, İstanbul, Turkey

20.

Division of Pediatric Gastroenterology, Health Sciences University, Behçet Uz Training and Research Hospital, İzmir, Turkey

21.

Department of Pediatric Gastroenterology, Osmangazi University School of Medicine, Eskişehir, Turkey

22.

Department of Pediatric Gastroenterology, Bezmialem University School of Medicine, İstanbul, Turkey

23.

Department of Pediatric Gastroenterology, Kırıkkale University School of Medicine, Kırıkkale, Turkey

24.

Department of Pediatric Gastroenterology, American Hospital, İstanbul, Turkey

25.

Department of Pediatric Gastroenterology, Gaziantep University School of Medicine, Gaziantep, Turkey

26.

Division of Pediatric Gastroenterology, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey

27.

Department of Pediatric Gastroenterology, İnönü University School of Medicine, Malatya, Turkey

28.

Department of Pediatric Gastroenterology, Celal Bayar University School of Medicine, Manisa, Turkey

29.

Division of Pediatric Gastroenterology, Health Sciences University, Sami Ulus Training and Research Hospital, Ankara, Turkey

30.

Department of Pediatric Gastroenterology, Hacettepe University School of Medicine, Ankara, Turkey

31.

Department of Pediatric Gastroenterology, Uludağ University School of Medicine, Bursa, Turkey

32.

Department of Pediatric Gastroenterology, Marmara University School of Medicine, İstanbul, Turkey

33.

Department of Pediatric Gastroenterology, Çukurova University School of Medicine, Adana, Turkey

34.

Physician’s Practice, Bursa, Turkey

35.

Yeditepe University School of Medicine, Department of Pediatric Gastroenterology, İstanbul, Turkey

36.

Department of Pediatric Gastroenterology, Bülent Ecevit University School of Medicine, Zonguldak, Turkey

37.

Division of Pediatric Gastroenterology, Health Sciences University, Ankara Children’s Hematology and Oncology Training and Research Hospital, Ankara, Turkey

38.

Turkish IBD Study Group

Turk J Gastroenterol 2021; 32: 248-260

DOI: 10.5152/tjg.2021.20057

Keywords : Children, familial Mediterranean fever, MEFV, mutation analysis, inflammatory bowel disease

Read: 2100 Downloads: 651 Published: 01 March 2021

Volume 32, Issue 3, March 2021

Previous Article

Background: 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.

Cite this article as: Urgancı N, Ozgenc F, Kuloglu Z, et al. Familial mediterranean fever mutation analysis in pediatric patients with İnflammatory bowel disease: a multicenter study. Turk J Gastroenterol. 2021; 32(3): 248-260.

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