以不宁腿综合征起病的家族性淀粉样多发性神经病1例
收稿日期: 2024-09-19
网络出版日期: 2025-12-26
版权
A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom
Received date: 2024-09-19
Online published: 2025-12-26
Copyright
不宁腿综合征（restless legs syndrome, RLS）是以睡眠期间双下肢不适感为特征的神经系统疾病，常为特发性，亦可继发于周围神经病等多种疾病；家族性淀粉样多发性神经病（familial amyloid polyneuropathy, FAP）是一种常染色体显性遗传病，作为罕见病因，其早期RLS样表现易被忽略。本文报道1例以RLS起病的基因检测为TTR基因Y114C突变的FAP，介绍其诊断、治疗及随访情况，并结合相关文献探讨此类患者的临床特点，旨在提醒临床医师对于家族史明确且合并周围神经病变的RLS患者，应重视FAP的基因筛查。
关键词： 不宁腿综合征; 家族性淀粉样多发性神经病; 转甲状腺素蛋白
刘希茜 , 李根 , 马建芳 . 以不宁腿综合征起病的家族性淀粉样多发性神经病1例[J]. 内科理论与实践, 2025 , 20(05) : 385 -387 . DOI: 10.16138/j.1673-6087.2025.05.07
Restless legs syndrome (RLS) is a neurological disorder characterized by discomfortable sensations in the lower limbs during sleep. It is often idiopathic, but can also be secondary to various diseases such as peripheral neuropathy. Familial amyloid polyneuropathy (FAP) is an autosomal dominant genetic disorder, and as a rare cause, its early RLS-like manifestations are easily overlooked. This article reports a case of FAP presenting with RLS as initial symptom, and genetic testing shows aTTR gene Y114C mutation. It introduces the diagnosis, treatment and follow-up of the case, and discusses the clinical features based on relevant literature, aiming to remind clinicians to perform genetic screening for FAP in RLS patients with a clear family history and concomitant peripheral neuropathy.
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