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GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE
A Journal on Internal Medicine and Pharmacology
Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Gazzetta Medica Italiana Archivio per le Scienze Mediche 2010 June;169(3):113-15
Coexistence of familial Mediterranean fever and ulcerative colitis in a Syrian boy
Jarjour R. A.
Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS) Damascus, Syria
Familial Mediterranean fever (FMF) and ulcerative colitis (UC) are both inflammatory diseases characterized by abdominal pain and fever. The coexistence of these two diseases may have a potential modifying effect on the clinical aspects of ulcerative colitis.
Aim. The aim of this report was to describe a Syrian boy with concomitant Familial Mediter-ranean fever and ulcerative colitis.
Materials and methods. A 12 year old boy was referred to the Clinical Genetics Unit for FMF mutation detection and genetic counseling. Mediterranean Fever (MEFV) gene mutation analysis was performed for 12 mutations using a reverse-hybridization assay (FMF Stirp Assay™).
Results. Clinical features of a new case of concomitant FMF and UC in a Syrian boy were described and the results of MEFV mutation analysis were presented and discussed.
Conclusion. There might be a modifying effect of MEFV mutations on the clinical manifestations of UC.