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

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