Kajinami K, Yagi K, Higashikata T, Inazu A, Koizumi J, Mabuchi H
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan.
Am J Cardiol. 1998 Jul 1;82(1):113-7. doi: 10.1016/s0002-9149(98)00230-6.
We compared the effects of cholesterol-lowering therapy on 2 patient groups genetically defined as heterozygous for familial hypercholesterolemia (FH), 5 with a deletion of exon 15 (FH(Tonami-1)), and 7 with a point mutation at codon 664 (FH(Kanazawa-2)). There were significant differences in both serum and low-density lipoprotein cholesterol reductions between the 2 groups after combination therapy with pravastatin and cholestyramine, and the overall effect of genotype on serial changes in both was significant.
我们比较了降胆固醇疗法对两组经基因定义为家族性高胆固醇血症(FH)杂合子患者的影响,其中5例为第15外显子缺失(FH(Tonami - 1)),7例为密码子664处存在点突变(FH(Kanazawa - 2))。在普伐他汀和考来烯胺联合治疗后,两组患者的血清胆固醇和低密度脂蛋白胆固醇降低情况均存在显著差异,并且基因型对两者系列变化的总体影响显著。