隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展  

Gene therapy for recessive dystrophic epidermolysis bullosa

作　　者：鲍迎秋[1] 张艳君 李博[1] 宫静 傅裕[1] 徐哲[4] Bao Yingqiu;Zhang Yanjun;Li Bo;Gong Jing;Fu Yu;Xu Zhe(Department of Dermatology,Beijing Hospital,National Center of Gerontology,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing 100730,China;Genmedicn Biopharma Inc.,Beijing 100176,China;Department of Dermatology,Outpatient Department,Karamay Central Hospital of Xinjiang,Karamay 834000,Xinjiang,China;Department of Dermatology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]北京医院皮肤科,国家老年医学中心,中国医学科学院老年医学研究院,北京100730 [2]中吉智药(北京)生物技术有限公司,北京100176 [3]克拉玛依市中心医院门诊部,克拉玛依834000 [4]国家儿童医学中心首都医科大学附属北京儿童医院皮肤科,北京100045

出　　处：《中华皮肤科杂志》2022年第8期739-743,共5页Chinese Journal of Dermatology

基　　金：北京市自然科学基金(7202177);北京市儿科学科协同发展中心"儿科专项"基金(XTAD20180502)。

摘　　要：隐性遗传性营养不良型大疱性表皮松解症(RDEB)是由编码Ⅶ型胶原α-1链的COL7A1基因发生突变导致缺少有功能的Ⅶ型胶原蛋白(C7)所致,尚无有效治疗方法,支持性缓和治疗是目前唯一的治疗手段。基因治疗有望成为RDEB的有效治疗措施。本文综述了目前国际上各RDEB基因治疗临床试验的策略、进展及优缺点,展望今后的发展方向。Recessive dystrophic epidermolysis bullosa(RDEB)is caused by loss-of-function mutations in the COL7A1 gene encoding theα-1 chain of typeⅦcollagen,leading to reduced or absent expression of basement membrane typeⅦcollagen(C7).Currently,there is no effective treatment for this rare disease,and the management is mainly palliative and supportive.Gene therapy is expected to be an effective treatment of RDEB.This review summarizes current strategies of gene therapy in clinical trials for RDEB,as well as their progress,pros and cons,and prospects.

关 键 词：大疱性表皮松解 基因疗法 胶原Ⅶ型 成纤维细胞 角蛋白细胞 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]