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Coexistence of polymyositis and familial Mediterranean fever
被引:3
|作者:
Eguchi, Mami
[1
]
Miyashita, Taiichiro
[1
]
Shirouzu, Haruka
[1
]
Sato, Saya
[1
]
Izumi, Yasumori
[1
]
Takeoka, Atsushi
[1
]
Ohno, Tadayoshi
[1
]
Sumiyoshi, Remi
[1
]
Nishino, Ayako
[1
]
Jiuchi, Yuka
[1
]
Nonaka, Fumiaki
[2
]
Eguchi, Katsumi
[2
]
Kawakami, Atsushi
[3
]
Migita, Kiyoshi
[1
]
机构:
[1] NHO Natl Nagasaki Med Ctr, Clin Res Ctr, Dept Gen Internal Med & Rheumatol, Omura 8568652, Japan
[2] Sasebo City Gen Hosp, Dept Rheumatol, Sasebo, Japan
[3] Nagasaki Univ Hosp, Dept Rheumatol, Nagasaki, Japan
关键词:
Familial Mediterranean fever;
CD64;
MEFV gene;
Polymyositis;
PROTRACTED FEBRILE MYALGIA;
DISEASE-CAUSING MUTATION;
MEFV GENE;
CRITERIA;
DERMATOMYOSITIS;
EXPRESSION;
DIAGNOSIS;
SPECTRUM;
CHILDREN;
CD64;
D O I:
10.1007/s10165-012-0649-2
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting populations surrounding the Mediterranean area. In this case report, we report a Japanese female patient with polymyositis (PM) who presented with periodic fever. Genetic analysis revealed that she had compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q/R202Q). Treatment with colchicines (1.0 mg/day) successfully eliminated febrile attack and normalized the elevated levels of neutrophil CD64 expression, leading to the diagnosis of FMF. The association of FMF and PM has not previously been reported, so we discuss this rare association.
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页码:374 / 378
页数:5
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