内科理论与实践2025，Vol.20Issue(5)：385-387,3.DOI:10.16138/j.1673-6087.2025.05.07
以不宁腿综合征起病的家族性淀粉样多发性神经病1例
A case of a familial amyloid polyneuropathy presenting with restless legs syndrome as initial symptom
LIU Xixi 1LI Gen 1MA Jianfang1
作者信息
- 1. @@@1.Department of Encephalopathy,Yichun Hospital of Traditional Chinese Medicine,Yichun 336000,China||2.a.Department of Neurology||b.Department of Geriatrics,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China
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摘要
Abstract
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 a TTR 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.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Key words
Restless legs syndrome/Familial amyloid polyneuropathy/Transthyretin分类
医药卫生引用本文复制引用
LIU Xixi,LI Gen,MA Jianfang..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(5):385-387,3.
