Horn N
Lancet. 1976 May 29;1(7970):1156-8. doi: 10.1016/s0140-6736(76)91543-9.
The incorporation of 64Cu into cultured fibroblasts from 7 boys with Menkes' steely hair disease and from 9 controls was examined. The median 20 h incorporation was 74-4 ng 64Cu/mg protein for the patients and 26-1 ng 64Cu/mg protein for the controls (P less than 0.01). Thus, the defect in copper metabolism in the disease was expressed in cultured cells. The method was applied to amniotic fluid cell-cultures of 2 pregnancies at risk and to amniotic fluid cell-cultures with a male karyotype of 8 normal pregnancies. The median 20h 64Cu incorporation into the normal cell-cultures was 19.2 ng 64Cu/mg protein, into the cell-culture from one pregnancy at risk was 48-6 ng 64Cu/mg protein, and from the other, 12-5 ng 64Cu/mg protein. The first case was aborted and the copper distribution in the fetus was found to be abnormal--consistent with Menkes' disease. The second case at risk was born in May, 1975, and no signs of Menkes' disease have developed. These cases demonstrate that prenatal diagnosis of Menkes' steely hair disease might be feasible.
对7名患有门克斯钢发综合征男孩及9名对照者的培养成纤维细胞摄取⁶⁴铜的情况进行了检测。患者20小时摄取⁶⁴铜的中位数为74.4纳克⁶⁴铜/毫克蛋白质，对照者为26.1纳克⁶⁴铜/毫克蛋白质（P<0.01）。因此，该疾病铜代谢缺陷在培养细胞中得以体现。该方法应用于2例有风险的妊娠羊水细胞培养以及8例正常妊娠男性核型的羊水细胞培养。正常细胞培养中20小时⁶⁴铜摄取的中位数为19.2纳克⁶⁴铜/毫克蛋白质，1例有风险妊娠的细胞培养为48.6纳克⁶⁴铜/毫克蛋白质，另1例为12.5纳克⁶⁴铜/毫克蛋白质。第一例终止妊娠，发现胎儿体内铜分布异常——与门克斯病相符。第二例有风险的妊娠于1975年5月分娩，未出现门克斯病迹象。这些病例表明，门克斯钢发综合征的产前诊断可能是可行的。
