Investigation of intestinal permeability in children with Familial Mediterranean Fever

Familial Mediterranean fever (FMF), it is a part of familial autoinflammatory syndromes that manifest with clinical findings such as recurrent fever, abdominal pain, arthralgia, erysipelas-like skin rashes, peritonitis, and pleuritis. The frequency of attacks varies between 1 week and 1 year. Attacks last between twelve and ninety-six hours. Mutations in the MEFV gene have been found in FMF disease. It is an autosomal recessive (OR) inherited disease. Recent studies have shown that there is a relationship between increased intestinal permeability and chronic and autoinflammatory diseases. Serum zonulin and claudin-3 are two important markers that play a role in tight junctions in the intestinal structure and are used to indicate intestinal permeability. In our study, children diagnosed with FMF were included in the study group and healthy children admitted for routine examination were included in the control group. Serum zonulin and claudin-3 levels were compared between the two groups. The relationship between age, gender, age at diagnosis, anthropometric measurements, attack patterns, genetic mutations, blood and urine parameters, and serum zonulin and claudin-3 levels of children with FMF were reported. Approval for this study was obtained from the Necmettin Erbakan University Faculty of Medicine Ethics Committee with the decision dated 15.04.2022 and numbered 2022/3757. Our study was composed of 43 children followed up with the diagnosis of FMF in the Pediatric Nephrology Outpatient Clinic of Necmettin Erbakan University Faculty of Medicine and 53 healthy children who applied to the Necmettin Erbakan University Faculty of Medicine Pediatrics Outpatient Clinic for routine examination. In our study, venous blood samples were taken to determine serum zonulin and claudin-3 levels in order to evaluate the intestinal permeability of children. Collected blood samples were studied by ELISA method. 69.8% (n=30) of the study group were female and 30.2% (n=13) was male. The median age of 43 children with FMF included in the study was 133 (95.00-158.00) months, and the median age of 53 children in the control group was 104.00 (68.50-153.50) months. There was no significant difference between the age, height, weight and body mass index values of the study and control groups. The median zonulin value of the study group was statistically significantly higher than the control group (p=0.004). There was no statistically significant difference between the study and control groups in terms of serum claudin-3 value (p=0.751). No study has been found in the literature on serum zonulin and claudin-3 levels in children with a previous diagnosis of FMF. Our findings suggest that serum zonulin level may be a valuable parameter in demonstrating the role of intestinal permeability in the etiopathogenesis of the disease in children with FMF. Since our findings are the first study to demonstrate intestinal permeability in children with a diagnosis of FMF, they will inspire future studies. Our study will contribute to the literature together with more comprehensive studies.