Willemse J, Van den Hamer C J, Prins H W, Jonker P L
Brain Dev. 1982;4(2):105-14.
Two patients with Menkes' kinky hair disease were examined. Both showed the characteristic clinical features of this disease in combination with a low plasma-copper level. However, for one of them, studies with 64Cu provided clues that the copper was handled in a way unusual for a Menkes patient, viz., incorporation of 64Cu into ceruloplasmin during an oral 64Cu-loading test and abnormal behavior of skin fibroblasts in in vitro experiments. A comparison with brindled mice and some clinical aspects, viz., the age at death, the quality of the hair and the macrocephaly, of both patients are discussed.
对两名患有门克斯卷发综合征的患者进行了检查。两人均表现出该疾病的典型临床特征，同时血浆铜水平较低。然而，其中一名患者的64Cu研究提供了线索，表明铜的处理方式与门克斯病患者不同，即在口服64Cu负荷试验期间64Cu掺入铜蓝蛋白，以及在体外实验中皮肤成纤维细胞行为异常。文中讨论了与斑驳小鼠的比较以及两名患者的一些临床方面，即死亡年龄、头发质量和巨头畸形。
