Urinary sediment dolichols in the diagnosis of neuronal ceroid‐lipofuscinosis
Urinary sediment dolichols in the diagnosis of neuronal ceroid‐lipofuscinosis
复制标题
尿沉渣多醇在神经元蜡样脂褐质沉积症诊断中的应用
作者：
L. Wolfe;J. Palo;P. Santavuori;F. Andermann;E. Andermann;J. Jacob;E. Kolodny
在婴儿、晚期婴儿和青少年形式的神经元蜡样脂褐质沉积症（NCL）患者的尿沉渣中，长链聚异戊二烯醇（dolichols）水平显著升高。这些疾病的专性杂合子的值与其他神经系统疾病患者和健康对照的值相似。青少年NCL患者的抗氧化治疗对多萜醇值没有影响。婴儿、晚期婴儿和青少年NCL的假阴性结果率分别为13.9%、7.5%和15.0%。在8.2%至14.3%的其他神经系统疾病患者和15.4%的健康对照中发现假阳性结果。该试验在诊断NCL和决定是否进行活检方面具有相当大的价值。然而，它在随机样本的筛选中没有用。
Long‐chain polyisoprenol alcohol (dolichols) levels are significantly increased in the urinary sediment of patients with infantile, late‐infantile, and juvenile forms of neuronal ceroid‐lipofuscinosis (NCL). The values in obligate heterozy‐gotes for these diseases are similar to those in patients with other neurological diseases and in healthy controls. Antioxidant treatment of patients with juvenile NCL has no effect on dolichol values. The rate of false‐negative results is 13.9% in infantile, 7.5% in late‐infantile, and 15.0% in juvenile NCL. False‐positive results were found in 8.2 to 14.3% of patients with other neurological diseases and in 15.4% of healthy controls. The test is of considerable value in the diagnosis of NCL and in decisions on whether to perform a biopsy. It is not useful in the screening of random samples, however.