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作者对38个家系的44例肝豆状核变性(Hepatolenticular degeneration,HLD)患者、35例HLD杂合子和26例先证者的同胞以及217个健康成人作了血清铜蓝蛋白和血清铜等含量的测定。结果表明HLD患者的血清铜蓝蛋白、血清铜、尿铜等的含量与健康人和杂合子均有显著差异,而头发铜和指甲铜的含量与健康人相同。HLD杂合子的血清铜蓝蛋白和血清铜的测定结果与健康人也有显著差异。我们还对上述铜代谢生化指标在临床诊断上的意义和38个家系的系谱调查结果进行了讨论。
The authors made a total of 44 cases of Hepatolenticular degeneration (HLD) patients in 38 pedigrees, 35 HLD heterozygotes and 26 proband siblings and 217 healthy adults for serum ceruloplasmin and serum copper and other content The determination. The results showed that the content of ceruloplasmin, serum copper and urinary copper in HLD patients were significantly different from those in healthy individuals and heterozygotes, while the content of copper in hair and nails were the same as healthy people. HLD heterozygous serum ceruloplasmin and serum copper determination results and healthy people are also significantly different. We also discussed the significance of these biochemical markers of copper metabolism in clinical diagnosis and pedigree findings of 38 pedigrees.