中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (9): 670-671.

• 皮肤科教程 • 上一篇    

原发性红斑性肢痛病

林志淼,杨勇   

  1. 北京大学第一医院皮肤科
  • 收稿日期:2009-09-10 修回日期:2010-02-09 发布日期:2010-09-10
  • 通讯作者: 杨勇 E-mail:dryongyang@bjmu.edu.cn

Primary erythemalgia

LIN Zhi-Miao Yong Yang2   

  • Received:2009-09-10 Revised:2010-02-09 Published:2010-09-10
  • Contact: Yong Yang E-mail:dryongyang@bjmu.edu.cn

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摘要：

原发性红斑肢痛症是一种罕见的先天性常染色体显性遗传性疼痛异常性疾病，临床表现为四肢末端遇热后对称性发作的红斑及疼痛。自从2003年杨勇等人发现该病的致病基因为SCN9A以后，原发性红斑肢痛症的发病机理研究不断深入进展。现在已有多个SCN9A基因的突变位点被发现，部分突变位点引发的电生理学改变已被阐明，临床表型与基因型之间关系正逐步被发现，且该病有数个基因突变热点。深入研究原发性红斑肢痛症的发病机制对于该病的治疗以及开发新型镇痛药靶点提供了新的理论依据。

关键词: 原发性红斑肢痛症, SCN9A, 基因突变, 突变热点, 镇痛药

Abstract:

Abstract: Primary erythermalgia (PEM) is a rare autosomal dominant inherited pain disorder. Clinically, PEM is characterized by symmetrical redness and burning pain of the feet and sometimes hands after exposure to warmth. Mutations in SCN9A, a sodium channel 1.7(Nav1.7) alpha subunit coding gene, are responsible for the pathogenesis of PEM. Recently, more than a dozen SCN9A mutations were detected in PEM patients from all over the world, parts of which were confirmed by electrophysiological analysis to cause a gain-of-function effect. These results suggest a relationship between clinical phenotype and mutation genotype of PEM. Progress in understanding the pathogenesis of PEM may lead us to exploit a new kind of analgesics without central nervous system side effect.

Key words: Primary erythermalgia, SCN9A, gene mutation, mutation hot spot, analgesics