Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

被引：0

作者：

Shinar, Y

Livneh, A

Langevitz, P

Zaks, N

Aksentijevich, I

Koziol, DE

Kastner, DL

Pras, M

Pras, E ^{[1
]}

机构：

[1] Chaim Sheba Med Ctr, Inst Human Genet, Dept Med C, IL-52621 Tel Hashomer, Israel

[2] NIAMSD, Genet Sect, NIH, Bethesda, MD 20892 USA

[3] Chaim Sheba Med Ctr, Heller Inst Med Sci, IL-52621 Tel Hashomer, Israel

来源：

JOURNAL OF RHEUMATOLOGY | 2000年 / 27卷 / 07期

关键词：

familial Mediterranean fever; genotype; phenotype;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective. To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF). Methods. Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity. Results. Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes. Conclusion. The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.

引用

页码：1703 / 1707

页数：5

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