Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background/aim: Familial Mediterranean fever (FMF) is charactarized by febrile episodes with sterile serositis. The aim of this study was to investigate the effect of homozygous, heterozygous,compound heterozygous and rare mutations on different disease manifestations, severity and response to treatment. Materials and methods: four hundred and ninety nine Egyptian children have FMF were included. They are being followed-up at Pediatric Rheumatology clinic, Specialized Children's hospital , Cairo university. Demographic data, clinical manifestations of the disease ,severity and response to treatment were assessed. MEFV gene mutations were recruited from patients files. Results: Two hundred and fourty four (48.9%) of patients had heterozygous mutations ,186 (37.3 %) had compound heterozygous mutations and 69 (13.8%) had homozygous. Eighty three ( 16.6%) of total patients had rare mutation. The 5 most common gene mutations were mutations V726A in 128(25.7%), E148Q in 95(19%), M694I in 76(13.4%), M680I in 62(12.4%), M694V in 55(11%) and the 1629del was the commenest among the rare mutations. Common gene mutations showed more affection with rash , oral ulcers while rare group showed more affection with convulsions with p value 0.028, 0.001 and 0.008 respectively. Amyloidosis was found associated with the M694V gene and common gene mutations only ( p =0.024) . More females were affected with rare mutations , while more males were affected with common mutations (p=0.024). Higher CRP and SAA associated with the common mutations with p value 0.002,0.002 respectively .Common mutations showed better response to treatment . Conclusion: Genotype of the disease may affect clinical manifestations

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