Corpus ID: 16139770

MEFV mutation analysis of familial Mediterranean fever in Japan.

@article{Tomiyama2008MEFVMA,
  title={MEFV mutation analysis of familial Mediterranean fever in Japan.},
  author={N. Tomiyama and Y. Higashiuesato and T. Oda and E. Baba and M. Harada and M. Azuma and T. Yamashita and K. Uehara and A. Miyazato and K. Hatta and Y. Ohya and K. Iseki and Y. Jinno and S. Takishita},
  journal={Clinical and experimental rheumatology},
  year={2008},
  volume={26 1},
  pages={
          13-7
        }
}
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients and their relatives to examine the clinical and genetic features of this disease in the Japanese… Expand
Familial Mediterranean Fever
TLDR
MEFV exon 10 mutations are associated with the more typical FMF phenotype, and patients having more than 2 MEFV mutations had a younger disease onset and a higher prevalence of thoracic pain than those carrying a single or no mutations. Expand
Familial Mediterranean Fever
TLDR
Investigating the correlation of variable clinical presentations and MEFV genotypic distributions in Japanese FMF patients showed that the variable associated with typical FMF presentation was the presence ofMEFV exon 10 mutations. Expand
Familial Mediterranean Fever: The First Adult Case in Korea
TLDR
The first adult case of FMF confirmed through detection of MEFV gene mutations in Korea is described and his clinical characteristics are described. Expand
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TLDR
A larger than expected number of patients with FMF exist in Japan, and the clinical presentation of Japanese FMF patients seems to be relatively milder than those of MediterraneanFMF patients. Expand
Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations
TLDR
Clinical features and efficacy of treatment in Japanese FMF patients vary widely according to the specific MEFV gene mutation, and therefore genetic analysis should be performed for diagnosis in cases of JapaneseFMF. Expand
Familial Mediterranean fever is no longer a rare disease in Japan
TLDR
FMF should be suspected in cases of unexplained fever or non-specific rheumatic manifestations, and mutational analysis of MEFV could be useful to predict the clinical phenotypes of FMF in Japan. Expand
Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients
TLDR
Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country. Expand
Familial Mediterranean Fever in Japan
TLDR
The differences in the prevalence of peritonitis, pleuritis, and a family history of FMF were statistically significant between FMF patients with MEFV exon 10 mutations compared with those without exon10 mutations. Expand
Familial Mediterranean Fever.
TLDR
The mainstay of treatment is life-long colchicine given daily to prevent the recurrence of febrile attacks and the development of amyloidosis. Expand
MEFV mutations in Northwest of Iran: a cross sectional study
TLDR
Frequency and distribution of MEFV mutations in Iranian Azerbaijanis with FMF have some similarities to those of the Turkish population reported previously, and M694I, the most common mutation among Arabs, is rare in this cohort. Expand
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TLDR
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TLDR
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