急性肝卟啉病的治疗进展

雷佳佳; 李霜; 董白雪; 杨静; 任毅

doi:10.12449/JCH240430

急性肝卟啉病的治疗进展

DOI: 10.12449/JCH240430

雷佳佳¹,
李霜¹,
董白雪¹,
杨静²,
任毅^2, , ,

1.
山西医科大学第一临床医学院，太原 030001
2.
山西医科大学第一医院内分泌科，太原 030001

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）

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出版历程
- 收稿日期: 2023-07-07
- 录用日期: 2023-07-26
- 出版日期: 2024-04-25

Advances in the treatment of acute hepatic porphyria

Jiajia LEI¹,
Shuang LI¹,
Baixue DONG¹,
Jing YANG²,
Yi REN^{2
, ,
,}

1.
The First Clinical Medical College of Shanxi Medical University，Taiyuan 030001，China
2.
Department of Endocrinology，The First Hospital of Shanxi Medical University，Taiyuan 030001，China

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

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。
- 卟啉病，肝 /
- 血红素 /
- 治疗学
Abstract: Acute hepatic porphyria （AHP） is a rare disease with abnormal heme metabolism， and breakthroughs have been made in the treatment of this disease in recent years. In addition to conventional treatment methods， this article reviews new therapies for AHP that are in the stage of initial clinical application or are still in the research stage， including RNAi therapy， enzyme replacement therapy， genetic supplementation of DNA or mRNA， drug molecular chaperones， and glycine transporter inhibitors for reducing heme synthesis. Moreover， this article also reviews the treatment of AHP-related comorbidities and complications， such as hyponatremia and posterior reversible encephalopathy syndrome. High glucose infusion is the main treatment method for AHP in China， and the improvement in diagnosis and increased attention to rare diseases in China has promoted the development of the diagnosis and treatment of AHP， and it is expected to explore more suitable treatment methods for AHP in the Chinese population in the future.
- Porphyrias， Hepatic /
- Heme /
- Therapeutics

HTML全文

图 1 血红素合成及AHP的治疗方法

Figure 1. Heme synthesis and treatment of acute hepatic porphyria

下载: 全尺寸图片幻灯片

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