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家族性高胆固醇血症临床表型及其与基因型关系 被引量:2

Clinical manifestations of familial hypercholesterolemia and its relationship with genotypes
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摘要 家族性高胆固醇血症(familial hypercholesterolemia,FH)是一种以血浆总胆固醇(total cholesterol,TC)和低密度脂蛋白胆固醇(low density lipoprotein cholesterol,LDL-C)水平增高,身体不同部位的皮肤或肌腱散发大小不等的黄色瘤及早发冠心病(premature coronary artery disease,PCAD)为特征的常染色体显性遗传性疾病。
作者 王蓓 林玲
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2016年第6期508-511,共4页 Chinese Journal of Practical Internal Medicine
关键词 家族性高胆固醇血症 临床表型 基因型 familial hypercholesterolemia clinical manifestations genotype
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参考文献26

  • 1沈山梅,崔伟娟,朱大龙,卞荣蓉,陈炜,王静,黄洪.家族性高胆固醇血症黄瘤病并发心脏瓣膜病变1例报告[J].中国实用内科杂志,2012,32(1):75-75. 被引量:3
  • 2王蓓,林玲.家族性高胆固醇血症的临床与基因治疗新进展[J].中国动脉硬化杂志,2014,22(12):1287-1291. 被引量:8
  • 3Fahed AC, Sara RM, Haddad FF, et al. Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation[J]. Molec Genet Metabol, 2011,102:181-188.
  • 4Al-Khateeb A, Talib HA, Mohamed MS, et aL Phenotype-genotype analyses of clinically diagnosed Malaysian familial hypercholestrolemic patients [J]. Adv Clin Exp Meal, 2013, 22( 1): 57-67.
  • 5Shiba MH, Arai H, Oikawa S, et al. Guidelines for the management of familial hypercholesterolaemia [J].J Atheroscler Thromb, 2012, 19 : 1043-100.
  • 6Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Fotmdation[J]. J Clin Lipidol, 2014, 2(19): 1-14.
  • 7Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia[J]. BMJ, 1991, 303:893-899.1192.
  • 8Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics [Jl.Am J Cardiol, 1993, 72: 171-177.
  • 9Defesche J. Familial hyperch01esterolemia[M]//Betteridge J, ed. Lipids and vascular disease, Vol. London, United Kingdom: Martin Dunitz; 2000:5-7.
  • 10Descamps OS. Familial hypercholesterolaemia in a Belgian community[J]. Acta Cardiol, 2000, 55(6):327-333.

二级参考文献60

  • 1王绿娅,蔺洁,刘舒,陈保生.家族性高胆固醇血症样表型遗传异质性的分子基础[J].Acta Genetica Sinica,2005,32(7):770-777. 被引量:14
  • 2Gaffney D, Reid JM, Vass K, et al. Independent mutations at Codon 3500 of the apolipoprotein B are associated with hyperlipidemia [ J ]. Arteriosclerosis, 1995,15 : 1025 - 1029.
  • 3Pullinger CB, Hennessy LK, Chatterton JE, et al. Familial ligand defective apolipoprotein B : identification of a new mutation that decreases LDL receptor binding affinity [J]. Clin Invest, 1995,95 : 1225 - 1234.
  • 4Bersot TP, Russell ST, Thatcher SR, et al. A unique haplotype of the apolipoprotein B-100 allete associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study the prevalence of this disorder [ J ]. Lipid Res, 1993,33 : 1149 - 1154.
  • 5Ismael E, Jose TR, Sergio MH, et al. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affect-ing ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population [ J ]. Translat Res ,2008,151 (3) : 162 - 167.
  • 6Joanna N, Reza M, Nita C, et al. Detection of familial defective apoB(FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography ( DHPLC ) [ J ]. Clin Biochem ,2008,41 (6) :395 - 399.
  • 7Meshkov AN, Chepetova TV, Stambolsky DV, et al. P05-145 the prevalence of apoB-100 R3500Q mutation in Russian patients with moderate and severe hypercholesterolemia [ J ]. Atheroscl Suppl, 2007,8(1) :53.
  • 8Wu JH, Lee YH, Hsu HC, et al. Further characterization of apolipoprotein B genetic variations in Taiwaneses [ J ]. Hum Biol,2001, 73(3) :451 -460.
  • 9HOBBS H H,BROWN M S,GOLDSTEIN J L.Molecular genetics of the LDL receptor gene in familial hypercholesterolemia[J].Hum Mutat,1992,1:445-466.
  • 10SOUTAR A K,NAOUMOVA R P.Mechanisms of disease:Genetic causes of familial hypercholerolemia[J].Nat Clin Pract Cardiovasc Med,2007,4:214-215.

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