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肝豆状核变性(Hepatolenticular degeneration,HLD)是一种铜代谢紊乱而引起的常染色体隐性遗传的疾病。本病最基本的生化缺陷尚不清楚。为了开展本病发病机理方面的研究工作,我们应用皮肤成纤维细胞离体培养的方法建立了病人的细胞模型,并应用阳极溶出伏安法测定了培养细胞中的铜含量。测定结果表明7例HLD患者培养细胞内铜的平均含量约为对照组的三倍。证实了本病铜积聚的遗传特征在离体培养的皮肤成纤维细胞中也得到表现,因而为研究HLD的发病机理开辟了一条新的研究途径。
Hepatolenticular degeneration (HLD) is an autosomal recessive disease caused by disorder of copper metabolism. The most basic biochemical defects of the disease is not clear. In order to carry out the research on the pathogenesis of this disease, we established the cell model of human skin fibroblasts in vitro and determined the content of copper in cultured cells by anodic stripping voltammetry. The results showed that the average intracellular copper content of seven HLD patients was about three times that of the control group. Confirmed the genetic characteristics of copper accumulating in the skin of cultured fibroblasts have also been shown, so as to study the pathogenesis of HLD has opened up a new research approach.