Advances in research on acute intermittent hematoporphyria

doi:10.12114/j.issn.1007-9572.2019.00.574

Abstract

Abstract: Acute intermittent porphyria（AIP） is an autosomal dominant disease，and it is a group of metabolic diseases caused by the overproduction of porphyrins or porphyrin precursors due to congenital or acquired defects of porphobilinogen deaminase in the pathway of heme biosynthesis.The clinical manifestations of AIP are complex and diverse，and repeated episodes are prone to multiple complications.Currently treatment methods of AIP include arginine heme，liver transplantation，intrasplenic hepatocyte transplantation，and so on，among which gene therapy，a new therapy，is expected by AIP patients both at home and abroad.This article introduces the latest advances in research on the pathogenesis，diagnosis，clinical manifestations，complications and treatment strategies of AIP，to improve clinicians' understanding of AIP and to provide more treatment options for AIP patients.

Key words: Genetic diseases, inborn；Acute intermittent porphyria；Liver neoplasms；Nephrosis；Heme；Review

摘要： 急性间歇性血卟啉病（AIP）是一种常染色体显性遗传病，是由于血红素生物合成途径中胆色素原脱氨酶（PBGD）的先天性或获得性缺陷以致卟啉或其前体过度生成所致的一组代谢性疾病。AIP临床表现复杂多样，反复发作，易出现多种并发症，目前其治疗方法包括精氨酸血红素、肝移植、经脾肝细胞移植，而基因治疗作为一种新兴疗法，受到国内外AIP患者的期待。本文从AIP的发病机制、诊断、临床表现、并发症、治疗策略等多方面介绍最新研究进展，以提高临床医师对AIP的认识，为AIP患者提供更多的治疗选择。

关键词: 遗传性疾病, 先天性, 急性间歇性血卟啉病, 肝肿瘤, 肾病, 血红素, 综述

LI Pingping1,HU Yiting2,ZHAGN Jian2, et al. Advances in research on acute intermittent hematoporphyria[J]. Chinese General Practice, 2020, 23(24): 3109-3113. DOI: 10.12114/j.issn.1007-9572.2019.00.574.
李苹苹1,胡义亭2,张建2等. 急性间歇性血卟啉病的研究进展[J]. 中国全科医学, 2020, 23(24): 3109-3113. DOI: 10.12114/j.issn.1007-9572.2019.00.574.

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