[首例西班牙家族性配体缺陷型载脂蛋白B纯合子的鉴定与特征分析]
[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote].
作者信息
Ejarque I, Civer M, Francisco Ascaso J, Knecht E, Eugenia Armengod M, Carmen R, Tomás Real J, Francisco Chaves J, Javier Martín De Llano J
机构信息
Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Universidad de Valencia.
出版信息
Med Clin (Barc). 2001 Feb 3;116(4):138-41.
BACKGROUND
Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB.
METHODS
We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and have identified the first Spanish homozygote for FDB.
RESULTS
The homozygote is a 58 year-old man with coronary heart disease, no presence of xanthomata and with total cholesterol and LDL cholesterol plasma levels of 415 and 352 mg/dl. The response to statins and resins was up to 42% for total cholesterol and 51% for LDLc plasma values. The LDL receptor activity was normal in the FDB homozygote.
CONCLUSIONS
We have identified and characterised the first Spanish homozygote for FDB (R3500Q mutation). Our data indicate a moderate lipoprotein phenotype in FDB homozygote, different as expected comparing to homozygous FH.
背景
家族性配体缺陷载脂蛋白B 100（FDB）是一种由于载脂蛋白B 100基因突变引起的常染色体显性遗传病，临床上与家族性高胆固醇血症（FH）难以区分。我们报道了首例西班牙籍FDB纯合子患者。
方法
我们对一个患有FDB的大家族进行了载脂蛋白B基因R3500Q突变筛查（PCR-SSCP分析），并鉴定出首例西班牙籍FDB纯合子患者。
结果
该纯合子患者为一名58岁男性，患有冠心病，无黄色瘤，血浆总胆固醇和低密度脂蛋白胆固醇水平分别为415和352mg/dl。使用他汀类药物和树脂治疗后，血浆总胆固醇下降了42%，低密度脂蛋白胆固醇下降了51%。FDB纯合子患者的低密度脂蛋白受体活性正常。
结论
我们鉴定并描述了首例西班牙籍FDB（R3500Q突变）纯合子患者。我们的数据表明，FDB纯合子患者具有中度脂蛋白表型，与纯合子FH患者预期的表型不同。
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