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KMID : 0191120120270111424
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Journal of Korean Medical Science
2012 Volume.27 No. 11 p.1424 ~ p.1427
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Familial Mediterranean Fever: The First Adult Case in Korea
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Lim Ah-Leum
Jang Hyun-Joo
Han Jung-Wan
Song Yong-Keun
Song Won-Jun
Woo Heung-Jung
Jung Young-Ok
Kae Sea-Hyub
Lee Jin
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Abstract
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Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.
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KEYWORD
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Familial Mediterranean Fever, Periodic Fever Syndrome, MEFV Gene
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