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家族性高胆固醇血症一家系分析
引用本文:李建军,王跃玲,胡成林,陈江斌,王晋明,许家. 家族性高胆固醇血症一家系分析[J]. 岭南心血管病杂志, 1998, 0(2)
作者姓名:李建军  王跃玲  胡成林  陈江斌  王晋明  许家
作者单位:湖北医科大学附一院心内科!武汉市,430060,湖北医科大学附一院心内科!武汉市,430060,湖北医科大学附一院心内科!武汉市,430060,湖北医科大学附一院心内科!武汉市,430060,湖北医科大学附一院心内科!武汉市,430060,湖北医科大学附一院心内科!武汉市,430060
摘    要:目的高胆固血脂一家系调查。调查一家族性高胆固醇血症(FH)三代共20名成员,其中包括一对孪生兄弟的患病情况。结果提示HF患者共8例。总患病率为40%,男性患病率为54.5%(6/11),女性患病率为22.2%(2/9),符合常染色体显性遗传。结论本例FH的家系特点为:①血清总胆固醇(TC)从儿重期始有增高,且随年龄的增长有增高趋势;②家系中一对单卵双生的孪生同胞均为患病者,其后代亦有TC增高;③先证者41岁起即以典型的卧位型心绞痛起病,冠状动脉造影提示三支冠状动脉多处严重狭窄,似提示FH家系中的冠心病患者发病早且病变严重。

关 键 词:家族性高胆固醇血症  冠状动脉粥样硬化性心脏病  家系调查

A pedigree analysis of a family with familial hypercholesterolemia
Li jianjun, Wu Chenglin, Chen Jiangbin,et al.. A pedigree analysis of a family with familial hypercholesterolemia[J]. South China Journal of Cardiovascular Diseases, 1998, 0(2)
Authors:Li jianjun   Wu Chenglin   Chen Jiangbin  et al.
Affiliation:Li jianjun, Wu Chenglin, Chen Jiangbin, etal.
Abstract:Objective The current studywas designed to investigated the features of a family with familial hpercholesterolemia (FH). MethodsTwenty members of three generations in a family with LH were enrolled in the study. The data collected were from clinical observations and subjected topedigree analysis. Results The proband was a 41 -year old male who suffered from angina decubituswith multi- vessel stenosis of coronary artery onsetting at the age of 41. There tvers were 8 FH individuals inthis family with the total incidence Of 40% [54.5%(6/11) in male and 22.2% (2/9) in female]. Theserum total cholesterol level was elevated in childhoodand tended to be raised with increasing age. In addition, the level of totla cholesterol was found to be elevated both in a monozygote twin brothers and theiroffspring in the family. Conclusion FH appears tobe a hereditary disease of autosomal dominance inheritance and the outcome of FH patients with coronaryheart disease seems to be poor.[
Keywords:Familial hypercholesterolemia    Coronary heart disease   Pedigree analysis
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