Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations

被引：6

作者：

Kimura, Kazuki ^{[1
,2
]}

Mizooka, Masafumi ^{[2
]}

Migita, Kiyoshi ^{[3
]}

Ishida, Ryoko ^{[1
,2
]}

Matsumoto, Masatoshi ^{[1
]}

Yamasaki, Satoshi ^{[4
]}

Kishikawa, Nobusuke ^{[2
]}

Kawahara, Akihiro ^{[2
]}

Kikuchi, Yuka ^{[2
]}

Otani, Yuichiro ^{[2
]}

Kobayashi, Tomoki ^{[2
]}

Miyamori, Daisuke ^{[2
]}

Ikute, Takuya ^{[5
]}

Nakamura, Hiroshi ^{[5
]}

Yokobayashi, Kenichi ^{[2
]}

Iwamoto, Shuichi ^{[2
]}

Kanno, Keishi ^{[2
]}

Ohire, Hiromasa ^{[6
]}

Tazuma, Susumu ^{[2
]}

机构：

[1] Hiroshima Univ, Dept Community Based Med Syst, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan

[2] Hiroshima Univ Hosp, Dept Gen Internal Med, Hiroshima, Hiroshima, Japan

[3] Fukushima Med Univ, Sch Med, Dept Rheumatol, Fukushima, Fukushima, Japan

[4] Kurume Univ, Div Rheumatol, Med Ctr, Kurume, Fukuoka, Japan

[5] Hiroshima Nishi Med Ctr, Dept Gen Internal Med, Otake, Hiroshima, Japan

[6] Fukushima Med Univ, Sch Med, Dept Gastroenterol, Fukushima, Fukushima, Japan

来源：

INTERNAL MEDICINE | 2018年 / 57卷 / 16期

关键词：

aseptic meningitis; familial Mediterranean fever; headache; Japan; periodic fever; inflammatory disease; AMYLOIDOSIS; SPECTRUM;

D O I：

10.2169/internalmedicine.0057-17

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of Mediterranean fever (MEFV) detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients. One patient with an S503C mutation showed resistance. Physicians should be aware of the characteristic symptoms, as well as the more unusual symptoms such as headache, when diagnosing FMF.

引用

页码：2425 / 2429

页数：5

共 50 条

[1] Familial Mediterranean Fever, Polyarteritis Nodosa and Mefv Mutations
Akpolat, Tekin
Ozkaya, Ozan
Ozen, Seza
TURKISH NEPHROLOGY DIALYSIS AND TRANSPLANTATION JOURNAL, 2013, 22 (01): : 68 - 71
[2] MEFV mutation analysis of familial Mediterranean fever in Japan
Tomiyama, N.
Higashiuesato, Y.
Oda, T.
Baba, E.
Harada, M.
Azuma, M.
Yamashita, T.
Uehara, K.
Miyazato, A.
Hatta, K.
Ohya, Y.
Iseki, K.
Jinno, Y.
Takishita, S.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2008, 26 (01) : 13 - 17
[3] A case of familial Mediterranean fever with triple MEFV gene mutations
Salehzadeh, Farhad
Fathi, Afshin
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2017, 20 (11) : 1872 - 1872
[4] MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever
El Gezery, Dalal A.
Abou-Zeid, Abla A.
Hashad, Doaa I.
El-Sayegh, Hesham K.
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (02) : 263 - 268
[5] Frequency data on mutations in MEFV associated with familial Mediterranean fever
Mikula, M.
Butler, A.
Sun, W.
Strom, C. M.
JOURNAL OF MOLECULAR DIAGNOSTICS, 2006, 8 (05): : 633 - 633
[6] MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever
Belmahi, Latifa
Cherkaoui, Imane Jaouad
Hama, Iman
Sefiani, Abdelaziz
RHEUMATOLOGY INTERNATIONAL, 2012, 32 (04) : 981 - 984
[7] Familial Mediterranean Fever in Lebanon:: Founder effects for different MEFV mutations
Jalkh, Nadine
Genin, Emmanuelle
Chouery, Eliane
Delague, Valerie
Medlej-Hashim, Myrna
Idrac, Charles-Antoine
Megarbane, Andre
Serre, Jean-Louis
ANNALS OF HUMAN GENETICS, 2008, 72 : 41 - 47
[8] MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever
Cekin, Nilgun
Akyurek, Murat Eser
Pinarbasi, Ergun
Ozen, Filiz
GENE, 2017, 626 : 9 - 13
[9] MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever
Latifa Belmahi
Imane Jaouad Cherkaoui
Iman Hama
Abdelaziz Sefiani
Rheumatology International, 2012, 32 : 981 - 984
[10] MEFV mutations in Tunisian patients suffering from familial Mediterranean fever
Chaabouni, Habiba Bouhamed
Ksantini, Mohamed
M'rad, Ridha
Kharrat, Maher
Chaabouni, Myriam
Maazoul, Faouzi
Bahloul, Zouhair
Ben Jemaa, Lamia
Ben Moussa, Fatma
Ben Chaabane, Taoufik
Mrad, Skander
Touitou, Isabelle
Smaoui, Nizar
SEMINARS IN ARTHRITIS AND RHEUMATISM, 2007, 36 (06) : 397 - 401

← 1 2 3 4 5 →