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谷固醇血症是一种罕见的常染色体隐性遗传病,是由ABCG5或ABCG8基因突变导致的肠道吸收植物固醇增加和通过胆汁排泄减少引起的.其特征是血植物固醇含量增加、高胆固醇血症、黄色瘤、早发动脉粥样硬化,部分患者出现口型红细胞溶血、巨血小板减少症等血液系统损害.通过气相色谱法或高效液相色谱法检测血植物固醇含量,或对ABCG5和ABCG8基因进行测序可以早期诊断.治疗方法包括限制饮食中胆固醇和植物固醇的摄入,以及使用胆固醇吸收抑制剂或胆汁酸螯合剂.该文对国内外有关谷固醇血症的研究现状作一综述.“,”Sitosterolemia is a rare autosomal recessive disorder,which is caused by increased intestinal absorption and decreased biliary excretion of plant sterols resulting from heterozygous mutations in either ABCG5 or ABCG8 gene.Sitosterolemia is characterized by increased serum plant sterol levels,hypercholesterolemia,xanthomas,accelerated atherosclerosis,and some patients have hematologic manifestations such as stomatocytic hemolysis,macrothrombocytopenia,etc.Early diagnosis can be made by serum plant sterol detection by gas chromatography mass spectrometry or liquid chromatography mass spectrometry,or ABCG5 and ABCG8 gene sequencing.The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols,and the sterol absorption inhibitor or bile acid sequestrants.This article reviewed recent publication of sitosterolemia at home and abroad.