Fonksiyonel karın ağrısı olan çocuklarda MEFV genlerinin artan sıklığı

Öz

Giriş ve Amaç: Fonksiyonel karın ağrısı olan çocuklarda MEFV gen mutasyonlarının sıklığını araştırmak. Gereç ve Yöntem: Kesitsel tipteki bu çalışma, Karabük Üniversitesi Tıp Fakültesi, Pediatri ve Pediatrik Gastroenteroloji Bilim Dalı’nda Ocak 2020-Aralık 2020 tarihleri arasında fonksiyonel karın ağrısı olan 1135 çocuk üzerinde yapıldı. Ailevi Akdeniz ateşi gen mutasyon analizi için genomik mini kit (Macherey-Nagel, Almanya) kullanılarak periferik kan lökositlerinden DNA ekstrakte edildi. MEFV geninin tüm kodlama bölgeleri ve ekzon-intron birleşimindeki 25 baz çifti incelendi. Bulgular: Fonksiyonel karın ağrısı olan 1135 hastanın (525 kız, %46.2) ortalama yaşı 9.4 yıldı. Yüz otuz dokuz (%12.2) çocukta en az 1 MEFV mutasyonu veya polimorfizmi bulundu. En yaygın MEFV gen değişikliği heterozigot p.M694V- (%3.7) olup, bunu p.E148Q- (%2.1), p.M680I- (%1.1) ve p.V726A- (%1.05) mutasyonları izledi. Heterozigot 3 mutasyon (p.P369S, p.E148Q, p.M680I) sadece 1 (%0.08) çocukta tespit edildi. Sonuç: Bu çalışma, fonksiyonel karın ağrısı olan çocuklarda MEFV gen mutasyonlarının bulunabileceğini göstermektedir. MEFV gen mutasyonlarının fonksiyonel karın ağrısında rol oynayıp oynamayacağına dair fazla ve kapsamlı çalışmalara ihtiyaç vardır.

Anahtar Kelimeler

• Fonksiyonel karın ağrısı
• MEFV
• çocuk

Increased frequency of MEFV genes in children with functional abdominal pain

Öz

Background and Aims: To investigate the frequency of MEFV gene mutations in children with functional abdominal pain. Materials and Methods: The cross sectional study was conducted in 1135 children diagnosed with functional abdominal pain at the Departments of Pediatric and Pediatric Gastroenterology of Karabük University Medical Faculty in Karabük, Turkey, from January 2020 to December 2020. For familial Mediterranean fever gene mutation analysis, genomic DNA was extracted from peripheral blood leukocytes using the mini kit (Macherey-Nagel, Germany). All coding regions of the MEFV gene and 25 base pairs in the exon-intron junction were examined. Results: The median age of 1135 patients with functional abdominal pain (525 female, 46.2%) were 9.4 years. One hundred thirty-nine (12.2%) children were found at least 1 MEFV mutation or polymorphism. The most common MEFV gene alteration was heterozygous p.M694V- (3.7%), followed by p.E148Q- (2.1%), p.M680I- (1.1%) and p.V726A- (%1.05). Heterozygous 3 mutations (p.P369S, p.E148Q, p.M680I) were detected in only 1 (0.08%) child. Conclusion: Present study indicates that MEFV gene mutations could be found among children with functional abdominal pain. Further and comprehensive studies are required whether MEFV gene mutations may play a role in the functional abdominal pain or not.

Anahtar Kelimeler

• Functional abdominal pain
• MEFV
• child

Kaynakça

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