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急性肝卟啉病的治疗进展

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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.
Advances in the treatment of acute hepatic porphyria
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,HepaticHemeTherapeutics

雷佳佳、李霜、董白雪、杨静、任毅

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山西医科大学第一临床医学院,太原 030001

山西医科大学第一医院内分泌科,太原 030001

卟啉病,肝 血红素 治疗学

山西省重点研发计划

201903D321127

2024

临床肝胆病杂志
吉林大学

临床肝胆病杂志

CSTPCD北大核心
影响因子:1.428
ISSN:1001-5256
年,卷(期):2024.40(4)
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