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转甲状腺素蛋白淀粉样变性:一种未被充分认识的神经病变和心肌病。

Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy.

作者信息

Galant Natalie J, Westermark Per, Higaki Jeffrey N, Chakrabartty Avijit

机构信息

Princess Margaret Cancer Centre, University Health Network, Department of Medical Biophysics, University of Toronto, TMDT 4-305, 101 College Street, Toronto, Ontario, Canada M5G 1L7.

Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

出版信息

Clin Sci (Lond). 2017 Mar 1;131(5):395-409. doi: 10.1042/CS20160413.

Abstract

Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment. The following review summarizes current criteria used to diagnose both hereditary and wild-type ATTR (ATTRwt) amyloidosis, tools available to clinicians to improve diagnostic accuracy, available and newly developing therapeutics, as well as a brief biochemical and biophysical background of TTR amyloidogenesis.

摘要

转甲状腺素蛋白(TTR)淀粉样变性(ATTR淀粉样变性)是一种诊断不足但重要的心肌病和/或多发性神经病类型,需要医学界提高认识。提高临床医生对这种神经病和致命性心脏病形式的认识,对于改善早期诊断和确定治疗患者至关重要。以下综述总结了用于诊断遗传性和野生型ATTR(ATTRwt)淀粉样变性的当前标准、临床医生可用于提高诊断准确性的工具、现有的和新开发的治疗方法,以及TTR淀粉样变发生的简要生化和生物物理背景。

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