Inherited metabolic disorders and dyslipidaemia

被引：9

作者：

Sulaiman, Raashda A. ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2020年 / 73卷 / 07期

关键词：

lipoproteins; lipids; inherited pathology; HIGH-DENSITY-LIPOPROTEIN; NIEMANN-PICK-DISEASE; ACID LIPASE DEFICIENCY; ESTER STORAGE DISEASE; FAMILIAL DYSBETALIPOPROTEINEMIA; MULTIFUNCTIONAL RECEPTOR; CHOLESTEROL; DIAGNOSIS; GENE; PATHOPHYSIOLOGY;

D O I：

10.1136/jclinpath-2019-205910

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides an overview of primary dyslipidaemias, highlighting their clinical presentation, relevant biochemical and molecular tests. It also addresses the emerging role of genetics in the early diagnosis and prevention of these disorders.

引用

页码：384 / 390

页数：7

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