Therapy: PCSK9 inhibitors for treating familial hypercholesterolaemia
Therapy: PCSK9 inhibitors for treating familial hypercholesterolaemia
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治疗：PCSK9抑制剂治疗家族性高胆固醇血症
DOI：
10.1038/nrendo.2014.205
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发表时间：
2015
影响因子：
40.5
通讯作者：
Nohara A.
中科院分区：
文献类型：
--
作者：
Mabuchi H;Nohara A.
家族性高胆固醇血症是由编码参与胆固醇代谢的蛋白质的基因突变引起的。低密度脂蛋白受体突变杂合子的患者对他汀类药物治疗有反应，而有纯合子低密度脂蛋白受体突变的个体则不起作用。PCSK9抑制剂已被开发用于治疗家族性高胆固醇血症，结果对杂合子或纯合子家族性高胆固醇血症患者都是有希望的。
Familial hypercholesterolaemia is caused by mutations in genes that code for proteins involved in cholesterol metabolism. Patients heterozygous for mutations inLDLRrespond to statin treatment, whereas individuals with homozygousLDLRmutations do not. PCSK9 inhibitors have been developed for treating familial hypercholesterolaemia, and results are promising for patients with either heterozygous or homozygous familial hypercholesterolaemia.