The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy

doi:10.3969/j.issn.1672-6731.2021.06.002

Abstract

Abstract:

Transthyretin amyloid polyneuropathy (ATTR-PN) is a rare and fatal autosomal-dominant hereditary disease caused by TTR gene mutations featured by peripheral neuropathy with multisystem involvements. ATTR-PN is prone to be misdiagnosed as different types of chronic acquired peripheral neuropathy, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) due to the highly clinical heterogeneity, and the diagnosis is usually delayed until 3 to 4 years later. ATTR-PN was once reported only in a few endemic regions. However, cases from 29 countries were reported subsequently which suggested a world -wide distribution, and increasing Chinese ATTR -PN cases have been reported in recent years. So far, several target drugs have been developed and marketed, and their selection, timing and efficacy need to be fully evaluated in the clinical process. Here, we review the progress of the diagnosis and treatment of ATTR-PN.

Key words: Transthyretin (not in MeSH), Amyloidosis, Peripheral nervous system diseases, Review

摘要：

转甲状腺素蛋白淀粉样变性多发性神经病（ATTR-PN）系TTR基因变异致周围神经和多器官系统受累的常染色体显性遗传性疾病。因其具有高度的临床异质性，极易误诊或延迟诊断，最常误诊为慢性炎性脱髓鞘性多发性神经根神经病，延迟诊断的平均时间为3~4年。ATTR-PN最初仅在几个流行国家或地区报道，随后的研究显示其为全球范围分布，迄今已有29个国家的病例报道，我国报道的ATTR-PN病例数逐渐增多。目前已有多种特异性药物研发批准上市，药物选择、治疗时机及治疗效果需综合评估。本文综述ATTR-PN诊断与治疗进展，以指导临床。

关键词: 转甲状腺素蛋白（非MeSH词）, 淀粉样变性, 周围神经系统疾病, 综述

ZHU Xi-ying, LIU Lei, ZHANG Ru-xu. The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2021, 21(6): 430-438.

朱习影, 刘蕾, 张如旭. 转甲状腺素蛋白淀粉样变性多发性神经病诊断与治疗进展[J]. 中国现代神经疾病杂志, 2021, 21(6): 430-438.

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URL: https://journal11.magtechjournal.com/cjcnn/EN/10.3969/j.issn.1672-6731.2021.06.002

https://journal11.magtechjournal.com/cjcnn/EN/Y2021/V21/I6/430

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