Clinical Study of 7 Cases of Familial MediterraneanFever with MEFV Gene Mutation

Kim, Shinho; Ikusaka, Masatomi; Mikasa, Grant; Basugi, Ayako; Ohira, Yoshiyuki; Nishizawa, Soko; Itoga, Sakae; Sunaga, Masahiko; Nomura, Fumio

doi:10.2169/internalmedicine.46.1828

Cited by 15 publications

(10 citation statements)

References 17 publications

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“…FMF is observed most frequently in Jewish, Armenian, Arab, Turkish, and Italian people, and it has been thought to be a rare disease in Japan. However, an increasing number of cases of FMF have been reported in Japan (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Unlike typical FMF cases in endemic areas, some cases in Japan have been sporadic and adult-onset cases.…”

Section: Introductionmentioning

confidence: 99%

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

et al. 2012

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We herein describe the case of a 25-year-old woman who suffered from atypical familial Mediterranean fever for more than a decade. She presented with a periodic fever, abdominal pain and persistent ulcers in the terminal ileum. Colchicine was effective, and familial Mediterranean fever was diagnosed. A genetic study showed a heterozygous E148Q mutation in the MEFV gene. Multiple, recurrent, abscess-like lesions developed asynchronously in the spleen, liver, and a lung. Infliximab was administered when colchicine treatment became ineffective. However, infliximab treatment soon became ineffective, probably because antibodies were generated against it. Therefore, etanercept treatment was started, and the patient showed an immediate response.

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Section: Introductionmentioning

confidence: 99%

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

et al. 2012

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“…In Japan, no case with the same MEFV genotype has been reported, but cases with homozygous M694I are associated with secondary amyloidosis, nodular erythema, and arthritis. 27 According to a Tunisian study, the most common mutation in their population is M680I. The M6801 mutation is frequent in Armenians and Turks but less common in Arabic populations and non-Ashkenazi Jews.…”

Section: Discussionmentioning

confidence: 99%

MEFV Gene Mutations in a Sample of Turkish Population: A Retrospective Study

Ceylan¹,

Tekedereli²

2011

Turkiye Klinikleri J Med Sci

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amilial Mediterranean fever (FMF) is a hereditary inflammatory disease characterized by recurrent attacks of fever and serositis. It affects more than 100000 patients worldwide. The disease is transmitted in Turkiye Klinikleri J Med Sci 2011;31(6) 1317 MEFV Gene Mutations in a Sample of Turkish Population:A Retrospective Study A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : Fa mi li al Me di ter ra ne an fe ver (FMF) is a he re di tary inf lam ma tory di se a se cha rac te ri zed by re cur rent at tacks of fe ver and se ro si tis. FMF is ca u sed by mu ta ti ons in the pro te in of MEFV ge ne (ma re nos trin). So far 152 mu ta ti ons and poly morp hisms ha ve be en iden ti fi ed. The five most com mon mu ta ti ons are M694V, M680I, M694I, E148Q, and V726A, most of which are cluste red on exon 10 and the se mu ta ti ons ac co unt for 74% FMF mu ta ti ons among Jews, Turks, Arabs and Ar me ni ans. In this ret ros pec ti ve study, we ai med to in ves ti ga te the spec trum of 12 MEFV mu ta tions and ge noty pes among Tur kish FMF pa ti ents re fer red from Me di cal Ge ne tics De part ment at Anka ra Ata turk Edu ca ti on and Tra i ning Hos pi tal lo ca ted in the cen tral re gi on of Tur key. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : We per for med re ver se hybri di za ti on (RH) met hod for de tec ting MEFV ge ne mu ta ti ons. R Re e--s su ul lt ts s: : We de tec ted dif fe rent ge noty pes in 288 (54%) of 532 ca ses by RH. Forty-six of the ca ses we re ho mozy go te for one mu ta ti on, 155 we re he te rozy go te, 87 we re com po und he te rozy go te for two diffe rent mu ta ti ons. No mu ta ti on was de tec ted in the re ma i ning 244 (46%) ca ses. The most frequent mu ta ti ons were M694V, fol lo wed by E148Q, M680I(G/C) and V726A. C Co on nc c l lu u s si i o on n: : Sin ce FMF is an im por tant di se a se be ca u se of its comp li ca ti ons, ge ne tic tests must be per for med for the pa ti ents with FMF cri te ri a and cli ni ci ans ha ve to be mo re ca re ful abo ut this di se a se.K Ke ey y W Wo or rd ds s: : Fa mi li al me di ter ra ne an fe ver; ma re nos trin; mu ta ti on Ö ÖZ ZE ET T A Am ma aç ç: : Ai le vi Ak de niz ate şi (FMF, fa mi li al Me di ter ra ne an fe ver) tek rar la yı cı ateş ve se ro zit atak la rı ile ka rak te ri ze he re di ter, inf la ma tu ar bir has ta lık tır. FMF'e MEFV ge ni pro te i nin de ki (mare nos trin) mu tas yon lar ne den ol mak ta dır. Gü nü mü ze dek 152 mu tas yon ve po li mor fizm ta nım lanmış tır. En sık göz le nen mu tas yon lar ço ğun luk la exon 10'da top lan mış olan ve Ya hu di ler, Türk ler, Arap lar ve Er me ni ler de ki FMF mu tas yon la rı nın %74'ün den so rum lu olan M694V, M680I, M694I, E148Q ve V726A' dır. Ret ros pek tif olan bu ça lış ma da An ka ra Ata türk Eği tim ve Araş tır ma Has tane si Tıb bi Ge ne tik Ana Bi lim Da lı' na sevk edi len Türk FMF has ta la rın da 12 MEFV mu tas yo nu ve ge no tip le ri nin spek tru mu nu araş tır mak amaç lan dı. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: : MEFV ...

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“…This observation suggests a crucial role for methionine residue at position 694 in the biological function of the MEFV product, pyrin. Of 29 genotyped Japanese patients with FMF, 22 (76%) had M694I: three patients were homozygous, and 19 patients were heterozygous [3][4][5][6][7]. Therefore, M694I on its own can cause FMF.…”

Section: Discussionmentioning

confidence: 99%

“…In the Far East, however, FMF is uncommon, because of lower allele frequencies of diseasecausing mutations of MEFV. Only 29 Japanese patients have been identified as carrying MEFV mutations [3][4][5][6][7]. Recently, we treated three Japanese patients with FMF: two siblings, and one patient without a family history of FMF.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2007

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We report on three Japanese patients (two families) with familial Mediterranean fever (FMF), a rare disease in the Far East. Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q. Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases). We therefore investigated the allele frequency of M694I in the healthy Japanese population, as well as other FMF-causing mutations in exon 10 (M680I, M694V, and V726A) and polymorphisms (E148Q, P369S, and R408Q) of the Mediterranean fever gene (MEFV). The allele frequencies of disease-causing mutations, even M694I, were <0.001. While those of E148Q, P369S, and R408Q were 0.23, 0.057, and 0.054, respectively. Because of the low allele frequencies of disease-causing mutations, FMF is an extremely rare disease among Japanese individuals. However, FMF is an important component of hereditary autoinflammatory syndrome, and a diagnosis of FMF is crucial for the choice of treatment, because of the benefit of colchicine therapy.

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Clinical Study of 7 Cases of Familial MediterraneanFever with MEFV Gene Mutation

Abstract: Objective Familial Mediterranean fever (FMF)

Cited by 15 publications

References 17 publications

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

An Atypical Familial Mediterranean Fever Patient Who Developed Ulcers in the Terminal Ileum and Recurrent Abscess-like Lesions in Multiple Organs

MEFV Gene Mutations in a Sample of Turkish Population: A Retrospective Study

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

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