Relationship between intussusception and familial Mediterranean fever: a molecular genetic study
Tugay Tartar1, Ebru Onalan2, Ünal Bakal3
1Department of Pediatric Surgery, Firat University Faculty of Medicine, Elazig, 23119, Turkey. tugaytartar@gmail.com.
Pediatric Surgery International
|August 14, 2026
Summary
Familial Mediterranean Fever (FMF) gene mutations are more common in children with intussusception. These genetic variants may contribute to the development of intussusception in pediatric patients.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Inflammatory Diseases
Background:
- Intussusception is a common cause of abdominal pain in children.
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
Purpose of the Study:
- To investigate the potential association between intussusception and Familial Mediterranean Fever (FMF) in pediatric patients.
- To determine if MEFV gene mutations are more prevalent in children diagnosed with intussusception.
Main Methods:
- Prospective evaluation of children aged 0-14 diagnosed with intussusception between 2016-2019.
- MEFV gene polymorphism and mutation analyses using Western blot and ELISA.
- Comparison of mutation rates between a control group and intussusception patients.
Main Results:
- A significantly higher rate of MEFV gene mutations was observed in children with intussusception (36.1%) compared to the control group (20%).
- Common mutations identified included E148Q, P369S, and V726A.
- Double mutations in the MEFV gene were also more frequent in the intussusception group.
Conclusions:
- The frequency of MEFV gene mutations is significantly elevated in children with intussusception.
- Genetic variants associated with FMF may play a role in the pathogenesis of childhood intussusception.
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