低胆固醇血症:罕见病的重要症状

Q3 Medicine

Voprosy Detskoi Dietologii Pub Date : 2022-01-01 DOI:10.20953/1727-5784-2022-4-70-80

S. Polyakova, P. Shumilov

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引用次数: 0

摘要

低胆固醇血症是一个重要的症状，可能表明存在严重的遗传性代谢疾病或获得性继发性病理。本讲座讨论了儿童低胆固醇血症的标准，胆固醇代谢及其紊乱的问题，以及低胆固醇血症的最常见原因。本文详细讨论了胆固醇合成障碍(Smith-Lemli-Opitz综合征)和高脂蛋白血症的发病机制、临床表现、诊断和治疗问题，并介绍了这些疾病患者的临床病例。关键词:遗传性代谢性疾病;低胆固醇血症;Smith-Lemli-Opitz综合征

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Hypocholesterolemia: an important symptom of rare diseases

Hypocholesterolemia is an important symptom that may indicate the presence of severe hereditary metabolic disease or acquired secondary pathology. This lecture discusses the criteria for hypocholesterolemia in children, issues of cholesterol metabolism and its disorders, and the most common causes of hypocholesteremia. Issues of pathogenesis, clinical picture, diagnosis, and treatment of cholesterol synthesis disorders (Smith–Lemli–Opitz syndrome) and abetalipoproteinemia are considered in detail, and clinical cases of patients with these diseases are presented. Key words: hereditary metabolic diseases, hypocholesterolemia, Smith–Lemli–Opitz syndrome, abetalipoproteinemia

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来源期刊

Voprosy Detskoi Dietologii Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.20

自引率

0.00%

发文量

期刊介绍： The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.