Advanced search
Publication Cover
Modern Rheumatology Volume 18, 2008 - Issue 1
Journal homepage
46
Views
27
CrossRef citations to date
0
Altmetric
Case Report

Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations

Tomoko SugiuraInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Yasushi KawaguchiInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, JapanCorrespondence[email protected]
,
Satoru FujikawaInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Yukiko HiranoDepartment of Pediatrics, Tokyo Women’s Medical University School of Medicine, Tokyo, Japan
,
Toru IgarashiDepartment of Pediatrics, Nippon Medical School, Tokyo, Japan
,
Manabu KawamotoInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Kae TakagiInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
,
Masako HaraInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
&
Naoyuki KamataniInstitute of Rheumatology, Tokyo Women’s Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan
 show all
Pages 57-59 | Received 11 Jul 2007, Accepted 09 Aug 2007, Published online: 02 Jan 2014

References

  • Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med. 1967;43:227–53.
  • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797–807.
  • Tomiyama N, Oshiro S, Higashiuesato Y, et al. End-stage renal disease associated with familial Mediterranean fever. Intern Med. 2002;41:221–4.
  • Yoshida K, Kanaoka S, Kajimura M, et al. A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV. Intern Med. 2003;42:761–4.
  • Kotone-Miyahara Y, Takaori-Kondo A, Fukunaga K, et al. E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. Int J Hematol 2004;79:235–7.
  • Nakamura A, Yazaki M, Tokuda T, Hattori T, Ikeda S. A Japa-nese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I. Intern Med. 2005;44: 261–5.
  • Kim S, Ikusaka M, Mikasa G, et al. Clinical study of 7 cases of familial Mediterranean fever with MEFV gene mutation. Intern Med. 2007;46:221–5.
  • Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40:1879–85.
  • Booth DR, Gillmore JD, Lachmann H.T, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM. 2000;93:217–21.
  • Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet. 2001;9:473–83.
  • Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Ann Rheum Dis. 2006;65:1154–7.
  • Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet. 2001;9:634–7.
  • Cazeneuve C, Sarkisian T, Pêcheux C, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diag-nostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999;65: 88–97.
  • Chae JJ, Komarow HD, Cheng J, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endo-toxin and a defect in macrophage apoptosis. Mol Cell. 2003;11:591–604.
  • Chae JJ, Wood G, Masters SL, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL- lbeta production. Proc Natl Acad Sci USA. 2006;103: 9982–7.
  • Majeed HA, EL-Shanti H, Al-Khateeb MS, Rabaiha ZA. Geno-type/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum. 2002;31:371–6.
  • Pras E, Livneh A, Balow JE, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet. 1998;75:216–9.
  • Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med. 1986;314:1001–5.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.