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.
Purpose:
We aimed to investigate the relationship between intussusception and familial Mediterranean Fever (FMF) in children diagnosed with intussusception.
Methods:
Patients aged 0-14 years who were followed up with a diagnosis of intussusception between 2016 and 2019 were evaluated prospectively. Mediterranean FeVer (MEFV) gene expression analyses, polymorphism and mutation analyses, which are important for FMF, were performed by Western blot and ELISA. Patients were categorized into two distinct groups; Group 1 (control group) consisted of individuals without a history of FMF, intussusception, or recurrent abdominal pain, while Group 2 comprised patients diagnosed with intussusception without prior FMF diagnosis or recurrent abdominal pain.
Results:
The rate of mutation detected in the MEFV gene was 20% in group 1 (n:100) and 36.1% in group 2 (n:194) (p = 0.004). The most frequently detected mutations in group 2 were E148Q, P369S, V726A, whereas in group 1, E148Q, V726A, P369S were detected. In group 2, 14.8% of the patients with mutations in the MEFV gene were doubling. Group 2 was statistically significant compared to group 1 in terms of mutation frequency, number of mutated patients and double mutation.
Conclusion:
The frequency of MEFV mutation was found to be significantly higher in patients with intussusception than in patients with FMF. These genetic variants predisposing to FMF may be effective in the development of intussusception.
Insights
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.
Related Concept Videos
01:25Inflammatory Bowel Disease III: Crohn's Disease
02:59Animal Mitochondrial Genetics