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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
    通信作者:

    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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