Petit H, Leys D, Skjeldal O H, Caron J C, Lambert P, Lehembre P, Hache J C
Rev Neurol (Paris). 1986;142(5):500-8.
Nine patients with symptoms and signs of Refsum's disease are reported. In 6 a systemic accumulation of phytanic acid was demonstrated, together with low phytanic acid oxidase activity in skin fibroblasts in 5 of them. In 3, no disorder of phytanic acid metabolism was demonstrated. In 3, the diagnosis was made during the pre-clinical period. The disease seems more frequent in Northern France, which agrees with the hypothesis of a genetic mutation which would have taken place in Scandinavia some centuries ago and was subsequently spread by the Vikings. The effects of a dietary treatment on serum phytanic acid levels and clinical disorders are reported. The general condition of the patients improved remarkably but only partially. The diet is unpalatable and in some patients the level of serum phytanic acid increased, due to the mobilization of body fat. Patients with very high levels of phytanic acid might be initially treated by plasmapheresis. For the same reason, the diet should supply enough calories to keep body weight unchanged, and body weight loss whatever its cause should be avoided.
报告了9例患有雷夫叙姆病症状和体征的患者。其中6例显示植烷酸全身性蓄积，5例皮肤成纤维细胞中的植烷酸氧化酶活性较低。3例未显示植烷酸代谢紊乱。3例在临床前期作出诊断。该病在法国北部似乎更为常见，这与几个世纪前在斯堪的纳维亚发生基因突变并随后由维京人传播的假说相符。报告了饮食治疗对血清植烷酸水平和临床病症的影响。患者的总体状况有显著改善，但只是部分改善。这种饮食难以下咽，在一些患者中，由于身体脂肪的动员，血清植烷酸水平升高。植烷酸水平非常高的患者可能最初采用血浆置换治疗。出于同样的原因，饮食应提供足够的热量以保持体重不变，应避免任何原因导致的体重减轻。
