Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent attacks of fever, peritonitis, pleuritis and/or synovitis. We retrospectively evaluated clinical findings, genetic features and responses to colchicine treatment in 120 children (60 female. 57 male) with FMF from 1999-2004. The diagnosis was based on Tel-Hashomer criteria. Demographic data and genetical features were collected from patient interviews and medical records. Average age was 11.58±4.01 years. Fever was present in 120 (100%) patients, followed by abdominal pain in 112 (93.3%), articular involvement in 78 (65%), chest pain in 27 (22.5%), hepatomegaly in 25 (20.8%), splenomegaly in 22 (18.3%), erysipelas-like erythema in 16 (13.3%) and vasculitis in 12 (10%) patients. Amyloidosis was present in 11 patients (9.1%; 9 girls, 2 boys), Genetic analysis for M694V, M680I and V726A mutations revealed that 42.5% of the patients were homozygous for M694V, 20% were heterozygous for M694V, and 7.5% were compound heterozygous (M694V/M680I), 11.6% of patients had none of the investigated mutations, 41.7% of all patients had consanguinity between the parents. Familial mediterranean fevel (FMF) is an autosomal recessive disease of childhood which is frequently seen in Turkey. Clinical findings and responses to colchicine treatment of Turkish children do not differ from that observed in children of other countries.

Keywords: ailevî Akdeniz ateşi, genetik mutasyon, klinik özellikler, kolşisin, familial mediterranean fever, genetic mutation, clinical features. colchicines