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      KCI등재 SCI SCIE SCOPUS

      Familial Mediterranean Fever: The First Adult Case in Korea

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      https://www.riss.kr/link?id=A104750885

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      다국어 초록 (Multilingual Abstract)

      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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      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 relat...

      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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      참고문헌 (Reference)

      1 Seyahi E, "Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents" 24 : 99-103, 2006

      2 Calligaris L, "The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever" 167 : 695-696, 2008

      3 구교연, "The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea" 연세대학교의과대학 53 (53): 454-458, 2012

      4 Ozen S, "Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF?" 30 : 281-287, 2001

      5 Tomiyama N, "MEFV mutation analysis of familial Mediterranean fever in Japan" 26 : 13-17, 2008

      6 Tamir N, "Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics" 87 : 30-35, 1999

      7 Metyas S, "Infliximab treatment of familial Mediterranean fever and its effect on secondary AA amyloidosis" 10 : 134-137, 2004

      8 Van der Hilst JC, "Hereditary periodic fever and reactive amyloidosis" 5 : 87-98, 2005

      9 Stojanov S, "Familial autoinflammatory diseases:genetics, pathogenesis and treatment" 17 : 586-599, 2005

      10 Sohar E, "Familial Mediterranean fever. A survey of 470 cases and review of the literature" 43 : 227-253, 1967

      1 Seyahi E, "Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents" 24 : 99-103, 2006

      2 Calligaris L, "The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever" 167 : 695-696, 2008

      3 구교연, "The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea" 연세대학교의과대학 53 (53): 454-458, 2012

      4 Ozen S, "Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF?" 30 : 281-287, 2001

      5 Tomiyama N, "MEFV mutation analysis of familial Mediterranean fever in Japan" 26 : 13-17, 2008

      6 Tamir N, "Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics" 87 : 30-35, 1999

      7 Metyas S, "Infliximab treatment of familial Mediterranean fever and its effect on secondary AA amyloidosis" 10 : 134-137, 2004

      8 Van der Hilst JC, "Hereditary periodic fever and reactive amyloidosis" 5 : 87-98, 2005

      9 Stojanov S, "Familial autoinflammatory diseases:genetics, pathogenesis and treatment" 17 : 586-599, 2005

      10 Sohar E, "Familial Mediterranean fever. A survey of 470 cases and review of the literature" 43 : 227-253, 1967

      11 Ozgocmen S, "Familial Mediterranean fever responds well to infliximab: single case experience" 25 : 83-87, 2006

      12 Domingo C, "Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity" 8 : 242-246, 2000

      13 Topaloglu R, "E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever" 64 : 750-752, 2005

      14 Livneh A, "Criteria for the diagnosis of familial Mediterranean fever" 40 : 1879-1885, 1997

      15 Ben-Chetrit E, "Colchicine prophylaxis in familial Mediterranean fever: reappraisal after 15 years" 20 : 241-246, 1991

      16 Tsuchiya-Suzuki A, "Clinical and genetic features of familial Mediterranean fever in Japan" 36 : 1671-1676, 2009

      17 Sayarlioglu M, "Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases" 59 : 202-205, 2005

      18 Goldbach-Mansky R, "Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses" 124 : 1141-1149, 2009

      19 The international FMF consortium, "Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever" 90 : 797-807, 1997

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2011-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2009-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2005-01-01 평가 SCI 등재 (등재유지) KCI등재
      2002-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      1999-07-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 1.48 0.37 1.06
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.85 0.75 0.691 0.11
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