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国际家族性高胆固醇血症基金会患者管理的整合指南解读 被引量：12

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摘要 家族性高胆固醇血症（familial hypercholesterolaemia,FH）是最常见的显性遗传疾病,其主要病理基础是低密度脂蛋白受体（low-density lipoprotein receptor,LDLR）基因突变,导致血浆清除LDL能力降低,LDL-C水平显著增高.FH患者通常在10 - 40岁间出现冠状动脉粥样硬化性心血管疾病的临床表现.
作者 江龙 王春梅 杨士伟 王绿娅
机构地区 首都医科大学附属北京安贞医院北京市心肺血管疾病研究所动脉粥样硬化室
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2014年第11期969-970,共2页 Chinese Journal of Cardiology
关键词 家族性高胆固醇血症 患者管理 动脉粥样硬化性心血管疾病 基金会 低密度脂蛋白受体 receptor LDL-C 解读
分类号 R589.2 [医药卫生—内分泌]
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参考文献1

  • 1Watts GF,Gidding S,Wierzbicki AS,et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation:executive summary[J].J Atheroscler Thromb,2014,21:368-374.

同被引文献112

  • 1Lynn Htet Aung,YIN Rui-xing,MIAO Lin,HU Xi-jiang, YAN Ting-ting,CAO Xiao-li,WU Dong-feng,LI Qing,PAN Shang-ling,WU Jin-zhen (Department of Cardiology,Institute of Cardiovascular Diseases, The First Affiliated Hospital,Guangxi Medical University, Nanning 530021,China).The proprotein convertase subtilisin/kexin type 9 geneE670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations[J].岭南心血管病杂志,2011,17(S1):162-162. 被引量：9
  • 2Fellin R, Arca M, Zuliani G, et al. The history of autosomal recessive hypercholesterolemia ( ARH ): from clinical observations to gene identification[J]. Gene, 2015,555 ( 1 ) : 23- 32.
  • 3Soutar AK, Naoumova RP, Traub LM. Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia[J]. Arterioseler Thromb Vasc Biol,2003, 23(11) : 1963-1970.
  • 4Gerald K, Ulrich L, Winfried M, et al. Familial hypercholesterolemia: developments in diagnosis and treatment [J]. Dtsch Arztebl Int,2014,111(31/32) :523-529.
  • 5Kolovou G, Vasiliadis I, Gontoras N, et al. Microsomal transfer protein inhibitors, new approach for treatment of familial hypercholesterolemia, review of the literature, original findings and clinical significance[J]. Cardiovasc Ther, 2015, 1 (2) : 1755-1762.
  • 6Faina MZ, Dorte D Michail YM, e al. Familial hypercholesterolemia in St. Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia[J]. BMC Med Genet,2005,2(8):6.
  • 7Hobbs HH, Brown MS, Goldstein JL. Molecular genetics o the LDL receptor gene in familial hypercholesterolemia[J]. Human Mutation,1992,1(6) :445-466.
  • 8Marang -van de Mheen PJ, van Maarle MC, Stouthard ME. Getting insurance after genetic screening on familial hypercholesterelaemia; the need to educate both insurers and the public to increase adherence to naXional guidelines in the Netherlands [ J ]. J Epidemiol Community Health, 2002, 56 (2): 145-147.
  • 9Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial h'ypercholesterelaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atheroscleresis Society [ J]. Eur Hear J, 2013, 34 (45) : 3478 -3490a.
  • 10Ose I Diagnostic, clinical, and therapeutic aspects of familial hypercholesterolemia in children [ J ]. Semin Vasc Med, 2004, 4 (1): 51-57.

引证文献12

二级引证文献47

中华心血管病杂志
2014年 第11期

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