大疱性表皮松解症及其分子治疗研究进展

Advances in epidermolysis bullosa and its molecular therapy

大疱性表皮松解症是一种罕见的遗传性皮肤病,其临床特征表现为皮肤及黏膜脆性增加,轻微创伤即可出现水疱和大疱。本病严重程度不一,可伴有局部或全身性并发症。目前临床还没有较为满意的治疗方案,多学科联合治疗的目的是尽量减少水疱的形成,缓解相应症状和并发症。现阶段药物治疗、体内外基因治疗、细胞疗法和蛋白质疗法等均取得了一定效果,正在进行相关临床试验,为未来这些治疗方法的临床普及奠定了基础。本文就大疱性表皮松解症(Epidermolysis bullosa,EB)及其分子治疗研究进展进行综述。

Epidermolysis bullosa(EB) is a rare genetic disorders characterized by mucocutaneous fragility and blister formation,inducible by mild trauma.They display a wide range of disease severity,with multiple local and systemic complications.There is often no effective therapy now and multidisciplinary care is targeted towards minimizing the risk of blister formation,reliving symptom and specific complications.At this stage,approaches such as pharmacological approaches,in vitro and in vivo gene therapy,cell therapies and protein replacement have shown promising results.A relatively large number of clinical trials are ongoing,laying a foundation for the clinical popularization of these therapies in the future.The update of EB and the molecular therapies is reviewed.