家族性公里micronemia综合征:厄瓜多尔报告的第一例病例

IF 1.9 Q3 PERIPHERAL VASCULAR DISEASE Clinica e Investigacion en Arteriosclerosis Pub Date : 2022-11-01 DOI:10.1016/j.arteri.2022.08.002

Karla Johana Garay García , Ricardo Javier Chong Menendez , Juan Patricio Nogueira , Jefferson Santiago Piedra Andrade

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引用次数: 1

摘要

家族性乳糜微粒血症综合征(FCS)是一种常染色体隐性遗传。基因突变(如APOC2、APOAV、LMF-1、GPIHBP-1)编码调节脂蛋白脂酶-1成熟、转运或聚合的蛋白质是最常见的原因，但不是唯一的原因。本研究的目的是报告厄瓜多尔第一例有记录的病例。临床病例:一名38岁男性，以慢性肝脾肿大、血小板减少、胰腺萎缩和严重高甘油三酯血症难治性表现。通过下一代测序进行分子分析，确定纯合子中脂蛋白脂肪酶OMIM #238600缺乏。遗传确认是必要的，以便建立HTGS的病因，以适当地管理这种病理。

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Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador.

Clinical case

A 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.

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来源期刊

Clinica e Investigacion en Arteriosclerosis PERIPHERAL VASCULAR DISEASE-

CiteScore

3.20

自引率

6.20%

发文量

审稿时长

40 days

期刊介绍： La publicación idónea para acceder tanto a los últimos originales de investigación como a formación médica continuada sobre la arteriosclerosis y su etiología, epidemiología, fisiopatología, diagnóstico y tratamiento. Además, es la publicación oficial de la Sociedad Española de Arteriosclerosis.