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了解肝性卟啉症:症状、治疗方法和未满足的需求。

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.

机构信息

Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania.

Pittsburgh Liver Institute, University of Pittsburgh, Pittsburgh, Pennsylvania.

出版信息

Semin Liver Dis. 2024 May;44(2):209-225. doi: 10.1055/s-0044-1787076. Epub 2024 May 17.

Abstract

Hepatic porphyrias are a group of metabolic disorders that are characterized by overproduction and accumulation of porphyrin precursors in the liver. These porphyrins cause neurologic symptoms as well as cutaneous photosensitivity, and in some cases patients can experience life-threatening acute neurovisceral attacks. This review describes the acute hepatic porphyrias in detail, including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, as well as the hepatic porphyrias with cutaneous manifestations such as porphyria cutanea tarda and hepatoerythropoietic porphyria. Each section will cover disease prevalence, clinical manifestations, and current therapies, including strategies to manage symptoms. Finally, we review new and emerging treatment modalities, including gene therapy through use of adeno-associated vectors and chaperone therapies such as lipid nanoparticle and small interfering RNA-based therapeutics.

摘要

肝性卟啉症是一组代谢紊乱疾病,其特征是肝脏中卟啉前体的过度产生和积累。这些卟啉会导致神经症状以及皮肤光敏性,在某些情况下,患者可能会经历危及生命的急性神经内脏发作。本综述详细描述了急性肝性卟啉症,包括急性间歇性卟啉症、遗传性粪卟啉症和变异性卟啉症,以及具有皮肤表现的肝性卟啉症,如迟发性皮肤卟啉症和肝红细胞生成性卟啉症。每个部分将涵盖疾病的患病率、临床表现和当前的治疗方法,包括管理症状的策略。最后,我们回顾了新出现的治疗方法,包括使用腺相关载体的基因治疗和伴侣蛋白治疗,如基于脂质纳米颗粒和小干扰 RNA 的治疗。

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本文引用的文献

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