Three Family Members with Familial Mediterranean Fever Carrying the M694V Mutation Showed Different Clinical Presentations

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概要

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• Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent episodes of fever and serositis. FMF is caused by mutations in the MEFV gene that encodes pyrin/marenostrin. The 5 most frequent mutations are M694V, M694I, V726A, M680I and E148Q. Here, we reported 3 FMF patients, a sister and two brothers, who have the same M694V mutation with different clinical presentations. While the sister presented with abdominal pain, one of the brothers presented with erysipelas-like erythema and the other brother with bilateral sacroiliitis. Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.

著者

• Altunoglu Alpaslan

  Department of Nephrology, Atatürk Education and Research Hospital, Turkey

関連論文

• Three Family Members with Familial Mediterranean Fever Carrying the M694V Mutation Showed Different Clinical Presentations
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