摘要
目的：研究家族性高胆固醇血症纯合子患者的发病机理。方法：在临床研究和家系调查的基础上, 培养患者皮肤成纤维细胞, 采用放射性配体结合受体分析技术研究其低密度脂蛋白受体。结果：患者低密度脂蛋白受体对低密度脂蛋白的高亲和性结合为正常人的７８．２％，高亲和性内移和降解则分别为正常人的３．６％和１．７％。结论：本例家族性高胆固醇血症纯合子患者的发病机制为低密度脂蛋白受体内移功能障碍。
Objective:To study the pathogenesis of a homozygo us patient with familial hypercholesterolemia.Methods:Based on c linical study and family line investigation, the skin fibroblast was culture d,and the low density lipoprotein receptor (LDL-R) of the cultured cell was analyzed by radial ligand binding receptor technique.Results:The b inding of the LDL R to LDL was 78.2% of the normal value; the internalization w as 3.6% of normal value and the intracellular degradation was 1.7% of normal val ue respectively.Conclusion:The pathogenesis of this FH homozygote w as the defect of internalization and intracellular degradation of LDL-R.
出处
《山东医科大学学报》
2002年第1期4-6,共3页
Acta Academiae Medicinae Shandong
基金
山东省自然科学基金资助课题 (No:Y98C11040)
