血浆置换治疗雷夫叙姆病（遗传性共济失调性多神经炎）
Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis).
作者信息
Harari D, Gibberd F B, Dick J P, Sidey M C
机构信息
Department of Neurology, Westminster Hospital, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1991 Jul;54(7):614-7. doi: 10.1136/jnnp.54.7.614.
Abstract
Five cases of heredopathia atactica polyneuritiformis (HAP--Refsum's disease) were treated by serial plasma exchanges. In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by an exacerbation of the ataxia and neuropathy. Lowering the plasma phytanic acid by plasma exchange produced a rapid clinical improvement. The main indication for plasma exchange in HAP is a severe or rapidly worsening clinical condition. A lesser indication is failure of dietary management to reduce a high plasma phytanic acid level.
摘要
对五例遗传性共济失调性多神经炎型（HAP——Refsum病）患者进行了系列血浆置换治疗。所有患者均出现热量摄入和体重下降，同时血浆植烷酸水平升高，随后共济失调和神经病变加重。通过血浆置换降低血浆植烷酸水平后，临床症状迅速改善。HAP患者进行血浆置换的主要指征是临床症状严重或迅速恶化。次要指征是饮食管理未能降低高血浆植烷酸水平。
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