A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV

被引：9

作者：

Yoshida, K ^{[1
]}

Kanaoka, S ^{[1
]}

Kajimura, M ^{[1
]}

Kataoka, H ^{[1
]}

Takahira, K ^{[1
]}

Osawa, S ^{[1
]}

Sano, M ^{[1
]}

Hishida, A ^{[1
]}

机构：

[1] Hamamatsu Univ Sch Med, Dept Med 1, Hamamatsu, Shizuoka 4313192, Japan

来源：

INTERNAL MEDICINE | 2003年 / 42卷 / 08期

关键词：

familial Mediterranean fever; FMF; MEFV; periodic fever; autosomal recessive disorder; genetic diagnosis;

D O I：

10.2169/internalmedicine.42.761

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reaction (PCR), followed by cycle sequencing. We detected a mutation (ATG to ATA) in codon 694 in exon 10 of the IMF gene, MEFV, that resulted in a substitution of isoleucine for methionine (M694I) in both her and her father. This is the first Japanese case of IMF with a mutation in MEFV identified in the family history.

引用

页码：761 / 764

页数：4

共 50 条

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