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转甲状腺素蛋白相关性家族性淀粉样多发性神经病(transthyretin-related familial amyloidotic polyneuropathy,TTR-FAP)是家族性淀粉样多发性神经病中最常见也是最严重的一种类型,是对患者造成生命威胁的遗传性神经退行性疾病。本文对TTR-FAP的基因突变特点、发病率、临床表现、诊断方法、现有的治疗措施作一综述。
Transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) is one of the most common and severe familial forms of amyloid polyneuropathy and is a life-threatening condition for patients Hereditary neurodegenerative diseases. This article reviews the characteristics of TTR-FAP gene mutations, the incidence, clinical manifestations, diagnostic methods, existing treatment measures are reviewed.