A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan
复制标题
DOI：
10.1007/s10165-009-0249-y
复制
发表时间：
2010-04-01
影响因子：
2.2
通讯作者：
Agematsu, Kazunaga
中科院分区：
文献类型：
--
作者：
Oshima, Koichi;Yamazaki, Kazuko;Agematsu, Kazunaga
家族性地中海热(FMF)是一种常染色体隐性遗传性疾病，以反复发作的自限性发热和浆膜炎/关节炎为特征。MEFV中的M694V、M694I、M680I、V726A和E148Q突变是导致地中海人群中大多数FMF病例的原因。在日本，最常见的是M694I和E148Q；到目前为止还没有发现M694V、M680I和V726A。我们报告日本第一例与M680I相关的FMF病例。
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent and self-limited fever attacks and serositis/arthritis. The M694V, M694I, M680I, V726A, and E148Q mutations in MEFV, the gene responsible for FMF, account for most FMF cases in Mediterranean populations. In Japan, M694I and E148Q are most frequently detected; M694V, M680I, and V726A have not been identified so far. We report the first case of FMF associated with M680I in Japan.