儿童纯合子家族性高胆固醇血症的治疗进展  

Progress in the treatment of pediatric homozygous familial hypercholesterolemia

作　　者：张军[1] 李燕虹[1] ZHANG Jun;LI Yan-hong(Department of Pediatrics,The First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院儿科,广东广州510080

出　　处：《中国实用儿科杂志》2024年第11期825-830,共6页Chinese Journal of Practical Pediatrics

摘　　要：纯合子家族性高胆固醇血症(homozygous familial hypercholesterolemia,HoFH)是一种罕见的危及生命的疾病。其主要表现是低密度脂蛋白胆固醇水平显著升高,10岁内开始出现冠状动脉在内的动脉粥样硬化性血管病变。HoFH在儿科的临床实践中仍然是一种鲜为人知的疾病,常延误诊断和治疗不足。该病最常见的原因是低密度脂蛋白受体(low-density lipoprotein receptor,LDLR)基因突变。需早期个体化的药物和多模式治疗,才能最终改善预后,该文着重梳理HoFH的治疗进展。Homozygous familial hypercholesterolemia(HoFH)is a rare,life-threatening disease.The main manifestation of the disease is a substantial elevation in low-density lipoprotein cholesterol levels,which can cause atherosclerotic vascular lesions including coronary arteries,beginning in the first ten years of life.HoFH is still a rare disease in pediatric clinical practice,and the diagnosis is usually postponed and the treatment is insufficient.A mutation in the low-density lipoprotein receptor(LDLR)gene is the most common cause of the illness.The disease requires early,intensive and individualized medication and multimodal treatment to improve the prognosis.This article focuses on the treatment progress of HoFH.

关 键 词：儿童 纯合子家族性高胆固醇血症 高脂血症 

分 类 号：R72[医药卫生—儿科]