Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by abdominal and chest pain and recurrent fever due to inflammation in the serosal membranes such as peritoneum, pleura and synovia. In FMF, recurrent inflammatory cytokine production may lead to cirrhosis. The aim of this study was to determine the prevalence of FMF in children with cryptogenic cirrhosis and it was found to be high, to add FMF among the etiological causes of cirrhosis.
Materials and methods: This prospective cohort study conducted at the Hospital of Inonu University, Malatya, Turkey. In this study, 44 patients diagnosed with cryptogenic cirrhosis by biopsy, in the Pediatric Gastroenterology, Hepatology and Nutrition Clinic, were included, after the other reasons that may cause chronic liver disease were excluded. MEVF gene analysis was performed for all patients with cryptogenic cirrhosis.
Results: FMF genetic mutation was detected in 9 (20%) of 44 patients. M694V mutation was detected in one patient (2.27%) and E148Q homozygous mutation was detected in one patient (2.27%). Various other heterozygous mutations were detected in seven other patients. Homozygous and heterozygous R202Q mutations were detected in one patient.
Conclusion: We suggest that FMF plays a role in the etiologic differential diagnosis of cryptogenic cirrhosis.
C1 [Varol, Fatma Ilknur] Inonu Univ, Dept Pediat Gastroenterol Hepatol & Nutr, Fac Med, Malatya, Turkey.
[Tabel, Yilmaz] Inonu Univ, Dept Pediat Nephrol, Fac Med, Malatya, Turkey.
[Yologlu, Saim] Inonu Univ, Dept Biostat, Fac Med, Malatya, Turkey.
[Yesilada, Elif] Inonu Univ, Dept Med Biol & Genet, Fac Med, Malatya, Turkey.