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原发性红斑肢痛症是一种罕见的常染色体显性遗传病,2001年Drenth等通过1例家系分析将原发性红斑肢痛症的致病基因定位于2q31-q32范围,2003年国内杨等进一步研究发现该病的致病基因可能为1个钠离子通道基因SCN9A。近几年研究发现了该病致病基因的更多突变位点,说明此病在不同种族和地区存在遗传异质性。同时研究发现不同突变位点的电生理学特征,为阐明此病的发病机制提供了依据,为治疗此病提供了新途径。
Primary erythema extremity pain is a rare autosomal dominant genetic disease in 2001, Drenth and other family members through a pedigree analysis of primary erythromelalgia disease pathogenic genes located in the 2q31-q32 range, in 2003 domestic Yang and other studies have found that the pathogenic gene may be a sodium ion channel gene SCN9A. In recent years, the study found more mutations in the disease-causing genes, indicating the genetic heterogeneity in different races and regions. At the same time, it is found that the electrophysiological characteristics of different mutation sites provide a basis for elucidating the pathogenesis of this disease and provide a new way for the treatment of this disease.