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本文以培养的皮肤成纤维细胞为离体细胞模型，首次利用电镜X射线显微分析技术，研究肝豆状核变性（HLD）不同基因组成状态（9例患者、7例来合子、8例正常对照）下以及不同病程人的成纤维细胞中溶酶体内外钢分布，并进行定量分析。实验结果表明：HLD早期患者细胞中溶酶体外的铜含量高于溶酶体内，而随病程的延长，铜逐渐向溶酶体内集聚。与此相比较，来合于和对照组细胞中溶酶体内外铜含量无显著差异。由此讨论了溶酶体在HLD病理发生发展中的作用，并提示本法可作为筛选症状前患者和杂台子的一种手段。
In this study, cultured human dermal fibroblasts were used as an ex vivo cell model and the first time using electron microscopy X-ray microscopy to study the genetic status of different genes in hepatolenticular degeneration (HLD) (9 patients, 7 cases of homozygotes, 8 cases of normal Control) and different stages of human fibroblasts lysosomal steel distribution in vitro and in vivo, and quantitative analysis. The experimental results show that: in patients with early HLD cell lysosome lysosome in vitro is higher than the content of copper, and with the extension of the disease, copper gradually lysosome accumulation. Compared with this, there was no significant difference in intra and extracellular lysosomal copper content in both cells and control cells. This discussion discusses the role of lysosomes in the pathogenesis of HLD and suggests that this method can be used as a screening tool for patients with presymptomatic and miscellaneous syndromes.