家族性发作性疼痛综合征研究进展

Research progress on familial episodic pain syndrome

家族性发作性疼痛综合征是以背根神经节神经元的离子通道基因突变为特征的一类疾病,可表现为不同部位的发作性神经性疼痛。但由于目前临床上对家族性发作性疼痛综合征的认识仍相对不足,同时缺乏统一的诊治标准作为指导,易漏诊和误诊。文中将围绕家族性发作性疼痛综合征的分类、发病机制、临床特征、诊断及治疗作一综述,旨在加深临床医师对该类疾病的认识,有利于早期诊治。

Familial episodic pain syndrome is characterized by ion channel gene mutation in dorsal root ganglion neurons,and there can be neuropathic pain in different parts.However,the lack of awareness of familial episodic pain syndrome,along with the absence of uniform diagnostic and treatment standards,may lead to frequent missed diagnosis and misdiagnosis.This article will review the concepts,classification,pathogenesis,clinical features,diagnosis and treatment of familial episodic pain syndrome,aimed at deepening the understanding of the diseases as well as facilitating early diagnosis and treatment.