Unusual presentation of familial Mediterranean fever: role of genetic diagnosis

被引：24

作者：

Nir-Paz, R

Ben-Chetrit, E

Pikarsky, E

Hassin, D

Hasin, Y

Chajek-Shaul, T

机构：

[1] Hadassah Univ Hosp, Dept Med, IL-91240 Jerusalem, Israel

[2] Hadassah Univ Hosp, Dept Pathol, IL-91240 Jerusalem, Israel

[3] Hadassah Univ Hosp, Dept Cardiol, IL-91240 Jerusalem, Israel

[4] Hillel Yaffe Hosp, Dept Med, Hadera, Israel

来源：

ANNALS OF THE RHEUMATIC DISEASES | 2000年 / 59卷 / 10期

关键词：

D O I：

10.1136/ard.59.10.836

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective-To describe the role of molecular analysis in the diagnosis of an unusual presentation of familial Mediterranean fever (FMF). Case report-Two patients presenting with prolonged fever without signs and symptoms of serositis are described. FMF was diagnosed by genetic analysis, which disclosed that both patients were homozygous for the M694V mutation of the Mediterranean fever (MEFV) gene. Conclusion-Molecular analysis of FMF should complement the investigation of patients with fever of unknown origin. This test enables a definite diagnosis of the disease and may promote the diagnosis and treatment of patients with an unusual or incomplete clinical picture of FMF.

引用

页码：836 / 838

页数：3

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