血脂异常基因检测:一种基于临床经验的方法

IF 6.1 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Amanda J. Berberich MD, PhD, FRCPC, Cert. Endo , Robert A. Hegele MD, FRCPC, Cert. Endo. FACP, FAHA, FCAHS, FCCS
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引用次数: 0

摘要

我们已经在我们的脂质临床中使用DNA测序>;20年。血脂异常通常通过生化方法确定。对于脂质分布的中度偏差,病因通常是多基因易感性成分加上次要非遗传因素的组合。对于严重的血脂异常,单基因病因更有可能,尽管经常没有发现离散的单基因病因。严重的表型也可能是由于强烈的多基因倾向,而次要因素会加剧这种倾向。发病年龄小,加上有血脂异常或动脉粥样硬化性心血管疾病家族史,可能提示单基因病因。对于严重的血脂异常,临床检查的重点是检测单基因综合征的表现。对于所有患有血脂异常的患者,必须排除次要原因。在这里,我们描述了一种基于经验的实用方法,用于对低密度脂蛋白、甘油三酯、高密度脂蛋白严重偏差以及合并高脂血症和非β脂蛋白血症患者进行基因检测。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic testing in dyslipidaemia: An approach based on clinical experience

We have used DNA sequencing in our lipid clinic for >20 years. Dyslipidaemia is typically ascertained biochemically. For moderate deviations in the lipid profile, the etiology is often a combination of a polygenic susceptibility component plus secondary non-genetic factors. For severe dyslipidaemia, a monogenic etiology is more likely, although a discrete single-gene cause is frequently not found. A severe phenotype can also result from strong polygenic predisposition that is aggravated by secondary factors. A young age of onset plus a family history of dyslipidaemia or atherosclerotic cardiovascular disease can suggest a monogenic etiology. With severe dyslipidaemia, clinical examination focuses on detecting manifestations of monogenic syndromic conditions. For all patients with dyslipidaemia, secondary causes must be ruled out. Here we describe an experience-based practical approach to genetic testing of patients with severe deviations of low-density lipoprotein, triglycerides, high-density lipoprotein and also combined hyperlipidaemia and dysbetalipoproteinemia.

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来源期刊
CiteScore
11.90
自引率
0.00%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.
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