急性间歇性卟啉病的治疗及进展

李茹; 任毅; 王建红; 杨静

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

李茹¹,
任毅²,
王建红³,
杨静^2, ,

1.
山西医科大学，太原 030001
2.
山西医科大学第一医院内分泌科，太原 030001
3.
山西省心血管病医院神经内科，太原 030024

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
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- 文章访问数: 1008
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- 被引次数: 0
出版历程
- 收稿日期: 2021-04-02
- 录用日期: 2021-04-26
- 出版日期: 2021-11-20

Advances in the treatment of acute intermittent porphyria

Ru LI¹,
Yi REN²,
Jianhong WANG³,
Jing YANG^{2
, ,}

1.
Shanxi Medical University, Taiyuan 030001, China
2.
Department of Endocrinology, The First Hospital of Shanxi Medical University, Taiyuan 030001, China
3.
Department of Neurology, Shanxi Cardiovascular Hospital, Taiyuan 030024, China

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

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。
- 卟啉病, 急性间歇性 /
- 治疗学 /
- 吉佛西兰
Abstract:
Acute intermittent porphyria (AIP) is a rare disease caused by enzyme deficiency due to HMBS gene mutation and is often life-threatening during acute attack. This article introduces the traditional treatment methods for AIP, such as high-carbohydrate therapy and intravenous heme infusion, as well as several emerging therapies targeting the etiology of AIP, including enzyme replacement therapy and gene therapy with multiple strategies of DNA gene augmentation, mRNA gene augmentation, and RNAi gene silencing. It is worth noting that breakthroughs have been made in Givosiran, a drug based on RNAi gene silencing, and it has been used in clinical practice. Gene therapy targeting the etiology of AIP may become a new trend in the treatment of rare diseases in the future.
- Porphyria, Acute Intermittent /
- Therapeutics /
- Givosiran

HTML全文

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。

下载: 全尺寸图片幻灯片

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