Naidu S, Maumanee I, Olson J, Borel J, Moser H
Kennedy Institute, Baltimore, Maryland 21205.
Am J Med Genet Suppl. 1988;5:283-9. doi: 10.1002/ajmg.1320310631.
Neuronal ceroid-lipofuscinosis (NCL) refers to a group of disorders with devastating effects on the central nervous system. The accumulation of autofluorescent lipopigments containing lipid peroxides is considered a pathogenetic mechanism of the cell damage seen in NCL. Therapy aimed at preventing further lipid peroxidation, such as the Zeman regimen, did not slow progression of the disease. Therefore, Santavuori and Westermarck [Santavuori and Westermarck 1984] introduced treatment with a combination of selenium and vitamin E and reported favorable results with few side effects. We present information on the rationale for the use of selenium, recommendations on the daily intake, and reported side effects. However, our limited experience with selenium in this disorder does not permit conclusions. Additionally, careful studies are indicated before this treatment is dispensed routinely.
神经元蜡样脂褐质沉积症(NCL)是指一组对中枢神经系统具有毁灭性影响的疾病。含有脂质过氧化物的自发荧光脂色素的积累被认为是NCL中所见细胞损伤的发病机制。旨在预防进一步脂质过氧化的疗法,如泽曼疗法,并未减缓疾病进展。因此,桑塔沃里和韦斯特马尔克[桑塔沃里和韦斯特马尔克1984年]引入了硒和维生素E联合治疗,并报告了良好的效果且副作用较少。我们提供了关于使用硒的理论依据、每日摄入量建议以及报告的副作用的信息。然而,我们在这种疾病中使用硒的经验有限,无法得出结论。此外,在常规使用这种治疗方法之前,需要进行仔细的研究。