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急性肝卟啉病的治疗进展

雷佳佳 李霜 董白雪 杨静 任毅

引用本文:
Citation:

急性肝卟啉病的治疗进展

DOI: 10.12449/JCH240430
基金项目: 

山西省重点研发计划项目 (201903D321127)

利益冲突声明:本文不存在任何利益冲突。
作者贡献声明:雷佳佳负责资料搜集与分析,撰写论文;任毅、杨静负责课题设计,修改论文;李霜、董白雪参与资料分析与总结;任毅负责拟定写作思路,指导撰写文章并最后定稿。
详细信息
    通信作者:

    任毅, renyi_0_0@163.com (ORCID: 0000-0002-1163-3642)

Advances in the treatment of acute hepatic porphyria

Research funding: 

Key Research and Development Project of Shanxi Province (201903D321127)

More Information
    Corresponding author: REN Yi, renyi_0_0@163.com (ORCID: 0000-0002-1163-3642)
  • 摘要: 急性肝卟啉病(AHP)是一种血红素代谢异常的罕见病,近年来对该病的治疗有了突破。除常规治疗外,本文重点综述了AHP的新疗法,这些治疗正处于初步应用于临床,或仍在研究阶段,包括RNAi疗法、酶替代疗法、DNA或mRNA的基因增补、药物分子伴侣和降低血红素合成的甘氨酸转运体抑制剂等。另外,本文对AHP相关的低钠血症、可逆性后部脑病综合征等合并症、并发症的治疗也进行了综述。我国对于AHP的治疗主要以高糖输注为主,我国诊断水平的提升及对罕见病的关注度增加,促进了AHP的诊治发展,有望今后能够探索更多适宜于我国人群的AHP的治疗方法。

     

  • 图  1  血红素合成及AHP的治疗方法

    Figure  1.  Heme synthesis and treatment of acute hepatic porphyria

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  • 收稿日期:  2023-07-07
  • 录用日期:  2023-07-26
  • 出版日期:  2024-04-11
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