【摘要】 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。更多还原

【Abstract】 The copper metabolic biochemical values in 44 patients with hepatolenticular degeneration (HLD) (within 38 pedigrees) were determined, including 35 HLD heterozygotes and 26 proband’s compatriots. The levels of ceruloplasmin and serum copper of 217 healthy persons were also determined. The results revealed that there were distinct statistical differences between the. patients and healthy persons in the concentrations of oeruloplasmin, serum copper and urine copper, while no difference in hair copper and nails copper. There were also significant statistical differences between HLD heterozygotes and healthy persons in the concentrations of ceruloplasmin and serum copper. The clinical diagnostic significances of the above copper metabolic biochemical analyses and the investigation results of 38 pedigrees were also discussed.更多还原