转甲状腺素蛋白淀粉样变性多发性神经病
Transthyretin amyloid polyneuropathy
郭军红 1王卓然1
作者信息
- 1. 山西医科大学第一医院神经内科,太原 030001
- 折叠
摘要
转甲状腺素蛋白淀粉样变性多发性神经病(ATTR-PN)是一种罕见的进行性致死性常染色体显性遗传病,由异常折叠的转甲状腺素蛋白(TTR)形成的淀粉样物质在周围神经及心脏、眼、肾脏等器官细胞外沉积引起.主要表现为多发周围神经病及自主神经功能障碍,常伴有心肌损害,不同基因突变型之间临床表现异质性大.活组织检查及基因检测是诊断该疾病的"金标准".其主要的治疗手段包括TTR稳定剂、RNA靶向沉默药物及肝脏移植.
Abstract
Transthyretin amyloid polyneuropathy is a rare progressive,autosomal dominant inherited disease that leads to death.It is caused by the deposition of amyloid-like substances formed by misfolded transthyretin protein(TTR)in the extracellular matrix of peripheral nerves,as well as in organs such as the heart,eyes,and kidneys.Its main manifestations include multiple peripheral neuropathies and autonomic dysfunction,often accompanied by myocardial damage.Clinical heterogeneity is significant among different gene mutation types.Tissue biopsy and genetic testing are the"gold standard"for diagnosing the disease.Major treatment modalities include TTR stabilizers,RNA-targeted silencing drugs,and liver transplantation.
关键词
淀粉样神经病,家族性/转甲状腺素蛋白/周围神经系统疾病/遗传学Key words
Amyloid neuropathies,familial/Transthyretin/Peripheral nervous system diseases/Genetics引用本文复制引用
出版年
2024
NETL
NSTL
万方数据