皮肤卟啉病的治疗进展  

Advances in the Treatment of Cutaneous Porphyria

作　　者：李霜 雷佳佳 董白雪 任毅[2] 杨静[2] LI Shuang;LEI Jiajia;DONG Baixue;REN Yi;YANG Jing(The First Clinical Medical School of Shanxi Medical University,Taiyuan 030000,China;Department of Endocrinology,the First Hospital of Shanxi Medical University,Taiyuan 030000,China)

机构地区：[1]山西医科大学第一临床医学院,山西太原030000 [2]山西医科大学第一医院内分泌科,山西太原030000

出　　处：《中国皮肤性病学杂志》2024年第7期822-826,共5页The Chinese Journal of Dermatovenereology

基　　金：山西省科技厅重点研发计划项目(201903D321127)。

摘　　要：卟啉病是血红素生物合成代谢过程中的酶缺陷而引起的一类罕见病。其中,皮肤卟啉病主要表现为日晒后出现暴露部位的疼痛和水疱等光敏症状。皮肤卟啉病的治疗以避光为主,目前针对皮肤卟啉病患者光敏性增加的特点,黑皮质素受体1(melanocortin 1 receptor,MC1R)激动剂、抗氧化剂及光疗法已在临床中试用,同时针对病因的基因疗法、降低血红素合成的甘氨酸转运体抑制剂和关键酶抑制剂正处于不断探索阶段。Porphyria is a rare disease caused by enzyme defects in the biosynthesis of heme.Cutaneous porphyria,one of its type,mainly exhibits photosensitive symptoms,such as skin pain and blisters on the exposed area,after exposure to sunlight.The treatment of cutaneous porphyria is mainly focused on avoiding light.Currently,melanocortin 1 receptor agonists,antioxidants and phototherapy are being tested in the clinic to treat the increased photosensitivity of patients with cutaneous porphyria.Moreover,gene therapy targeting the etiology,glycine transporter inhibitors,and key enzyme inhibitors that reduce heme synthesis are also under constant exploration.

关 键 词：卟啉病 皮肤 治疗学 罕见病 

分 类 号：R589.8[医药卫生—内分泌]