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急性间歇性卟啉病的治疗及进展

李茹 任毅 王建红 杨静

李茹, 任毅, 王建红, 等. 急性间歇性卟啉病的治疗及进展[J]. 临床肝胆病杂志, 2021, 37(11): 2728-2731. DOI: 10.3969/j.issn.1001-5256.2021.11.053
引用本文: 李茹, 任毅, 王建红, 等. 急性间歇性卟啉病的治疗及进展[J]. 临床肝胆病杂志, 2021, 37(11): 2728-2731. DOI: 10.3969/j.issn.1001-5256.2021.11.053
LI R, REN Y, WANG JH, et al. Advances in the treatment of acute intermittent porphyria[J]. J Clin Hepatol, 2021, 37(11): 2728-2731. DOI: 10.3969/j.issn.1001-5256.2021.11.053
Citation: LI R, REN Y, WANG JH, et al. Advances in the treatment of acute intermittent porphyria[J]. J Clin Hepatol, 2021, 37(11): 2728-2731. DOI: 10.3969/j.issn.1001-5256.2021.11.053

急性间歇性卟啉病的治疗及进展

DOI: 10.3969/j.issn.1001-5256.2021.11.053
基金项目: 

山西省科技厅重点研发计划项目 201903D321127

山西省科技厅重点研发计划项目 210903D321048

山西省科技成果转化引导专项项目 201804D131044

详细信息
    通讯作者:

    杨静,yangjlm@126.com

  • 中图分类号: R575

Advances in the treatment of acute intermittent porphyria

Research funding: 

Key Research and Development Project of Shanxi Province 201903D321127

Key Research and Development Project of Shanxi Province 210903D321048

Special Project on the Transformation and Guidance of Scientific and Technological Achievements in Shanxi Province 201804D131044

  • 摘要:

    急性间歇性卟啉病(AIP)是一种HMBS基因突变而导致酶缺陷的罕见病,急性发作时常危及生命。介绍了AIP的高碳水化合物疗法和静脉输注血红素等传统治疗,以及一些针对病因的新兴疗法,包括酶替代治疗和DNA基因增补、mRNA基因增补、RNAi基因沉默等多个策略的基因治疗。其中基于RNAi基因沉默的药物吉佛西兰(Givosiran)已取得了突破进展,已经应用于临床。未来针对病因的基因治疗可能会成为罕见病治疗的新趋势。

     

  • 图  1  AIP的发病机制及治疗策略

    注:HMB,羟甲基胆素;ALAD,ALA脱水酶。

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  • 收稿日期:  2021-04-02
  • 录用日期:  2021-04-26
  • 出版日期:  2021-11-20
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