Refsum病研究进展
摘要
Refsum病，又名遗传性共济失调性多发性神经炎样病、植烷酸贮积病．1945年首先由Refsum报道．是一种罕见的常染色体隐性遗传疾病。常见父母近亲结婚者，有关其患病率文献中尚无报道。近年来已被归为常染色体隐性遗传的运动感觉神经病Ⅳ型。临床特征为儿童后期及青少年隐袭起病，渐进性进展，出现视力减退、夜盲及视网膜色素变性、多发性运动、感觉周围神经病及小脑性共济失调等表现。因此病极其少见．在我国尚无文献来系统介绍此病．故本文就最新的国外研究数据来探讨其病因及发病机制、临床表现、诊断及治疗等。
出处
《实用医学杂志》
CAS
北大核心
2010年第1期4-6,共3页
The Journal of Practical Medicine
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