A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV.
A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV.
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日本一例家族性地中海热病例，其家族史显示 MEFV 突变。
DOI：
10.2169/internalmedicine.42.761
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发表时间：
2003
影响因子：
1.2
通讯作者：
A. Hishida
中科院分区：
文献类型：
--
作者：
Ken;S. Kanaoka;M. Kajimura;H. Kataoka;K. Takahira;S. Osawa;M. Sano;A. Hishida
我们描述了一名17岁的女性，她有FMF家族史，她经常发烧并伴有左胸和腹部疼痛。在5年的时间里，她每6个月就会发作一次。甲氨酚刺激试验呈阳性。采用聚合酶链式反应（PCR）对其及其父母外周血淋巴细胞的基因组DNA进行分析，然后进行循环测序。我们在FMF基因MEFV的第10外显子694密码子上检测到一个突变（ATG到ATA），导致异亮氨酸取代蛋氨酸（M6941）。这是日本第一例在家族史中发现MEFV突变的FMF病例。
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 FMF gene, MEFV, that resulted in a substitution of isoleucine for methionine (M6941) in both her and her father. This is the first Japanese case of FMF with a mutation in MEFV identified in the family history.