Nafiye Urgancı1, Funda Ozgenc2, Zarife Kuloğlu3, Hasan Yüksekkaya4, Sinan Sarı5, Tülay Erkan6, Zerrin Önal7, Gönül Çaltepe8, Mustafa Akçam9, Duran Arslan10, Nur Arslan11, Reha Artan12, Ayşen Aydoğan13, Necati Balamtekin14, Maşallah Baran15, Gökhan Baysoy16, Murat Çakır17, Buket Dalgıç5, Yaşar Doğan18, Özlem Durmaz19, Çiğdem Ecevıt20, Makbule Eren21, Selim Gökçe22, Fulya Gülerman23, Figen Gürakan24, Samil Hızlı25, Ishak Işık26, Ayhan Gazi Kalaycı8, Aydan Kansu3, Tufan Kutlu6, Hamza Karabiber27, Erhun Kasırga28, Günsel Kutluk7, Ferdağ Özbay Hoşnut29, Hasan Özen30, Tanju Özkan31, Yeşim Öztürk11, Özlem Bekem Soylu20, Engin Tutar32, Gökhan Tümgör33, Fatih Ünal34, Meltem Ugraş35, Gonca Üstündağ36, Aytaç Yaman37, Turkish Ibd Study Group38. 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.
Abstract
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.
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.
Authors: Jeffrey Hyams; James Markowitz; Anthony Otley; Joel Rosh; David Mack; Athos Bousvaros; Subra Kugathasan; M Pfefferkorn; Vasundhara Tolia; Jonathan Evans; William Treem; Robert Wyllie; Robert Rothbaum; J del Rosario; Aubrey Katz; Adam Mezoff; M Oliva-Hemker; Trudy Lerer; Anne Griffiths Journal: J Pediatr Gastroenterol Nutr Date: 2005-10 Impact factor: 2.839
Authors: Y Ogura; D K Bonen; N Inohara; D L Nicolae; F F Chen; R Ramos; H Britton; T Moran; R Karaliuskas; R H Duerr; J P Achkar; S R Brant; T M Bayless; B S Kirschner; S B Hanauer; G Nuñez; J H Cho Journal: Nature Date: 2001-05-31 Impact factor: 49.962
Authors: R Deniz; G Ozen; S Yilmaz-Oner; F Alibaz-Oner; C Erzik; S Z Aydin; N Inanc; F Eren; F Bayalan; H Direskeneli; P Atagunduz Journal: Lupus Date: 2014-11-20 Impact factor: 2.911