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GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE

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Gazzetta Medica Italiana Archivio per le Scienze Mediche 2010 June;169(3):113-15

language: English

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


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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.

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