【摘要】 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。更多还原

【Abstract】 Hepatolenticular degeneration (HLD) is an autosomal reoessively inherited disease caused by copper metabolic dysfunction. Its basic biochemical defect is still unclear. In order to investigate the pathogenesis of this disorder, an in vitro model of cultured skin fibroblasts of the patients was established, and intraoellular content of copper in cultured cells was determined by anodic stripping voltammetry. The results revealed that the average copper amount of cells derived from 7 HLD patients was approximately threefold as much as that of normal cells. It was proved that the genetic abnormality of copper accumulation could be expressed in cultured fibroblasts. Thus, a new way for studying HLD has been established. The data also suggest that the cultured skin fibroblasts are useful for early diagnosis and detection of heterozy-gotes.更多还原