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本文引用的文献

1
Diagnosis and management of type I and type V hyperlipoproteinemia.I 型和 V 型高脂蛋白血症的诊断和治疗。
J Atheroscler Thromb. 2012;19(1):1-12. doi: 10.5551/jat.10702. Epub 2011 Dec 1.
2
Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report.儿童和青少年心血管健康与风险降低综合指南专家小组:总结报告
Pediatrics. 2011 Dec;128 Suppl 5(Suppl 5):S213-56. doi: 10.1542/peds.2009-2107C. Epub 2011 Nov 14.
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Hypertriglyceridemia: its etiology, effects and treatment.高甘油三酯血症:其病因、影响及治疗
CMAJ. 2007 Apr 10;176(8):1113-20. doi: 10.1503/cmaj.060963.
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Arterial mechanical changes in children with familial hypercholesterolemia.家族性高胆固醇血症患儿的动脉力学变化
Arterioscler Thromb Vasc Biol. 2000 Sep;20(9):2070-5. doi: 10.1161/01.atv.20.9.2070.
5
Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management.儿童家族性混合性高脂血症:临床表现、代谢缺陷及管理
Curr Probl Pediatr. 1994 Oct;24(9):295-305. doi: 10.1016/0045-9380(94)90010-8.
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The clinical, biochemical, and familial presentation of type V hyperlipoproteinemia in childhood.儿童V型高脂蛋白血症的临床、生化及家族表现
Pediatrics. 1977 Apr;59(4):513-25.

一名6岁男孩的严重高甘油三酯血症病例。

A Case of Massive Hypertriglyceridemia in 6 Year Old Boy.

作者信息

Purohit Purvi, Khera Daisy, Sharma Praveen, Singh Kuldeep

机构信息

Department of Biochemsitry, AIIMS Jodhpur, Jodhpur, India.

Department of Pediatrics, AIIMS Jodhpur, Jodhpur, India.

出版信息

Indian J Clin Biochem. 2017 Oct;32(4):493-495. doi: 10.1007/s12291-016-0626-1. Epub 2016 Nov 16.

DOI:10.1007/s12291-016-0626-1
PMID:29062184
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5634976/
Abstract

Type V hypertriglyceridemia in children is a rare condition since it has often been associated with obesity, type II diabetes, metabolic syndrome and hormone therapy. We encountered a case of massive hypertriglyceridemia (1900 mg/dl) in a 6 years old boy with complains of acute pancreatitis but no physical manifestations. There was no family history of sudden cardiac death, father and younger male sibling were found to be normal. The mother however had hypertriglyceridemia. The child was managed by dietary changes, omega 3 capsules and low dose fenofibrate. On follow up showed there was reduction in lipid profile and lipoprotein electrophoretic pattern showed bands for VLDL and chylomicron indicating type V hyperlipidemia. Early diagnosis via screening for lipid profile of such patients and their family can improve prognosis and quality of life of these children.

摘要

儿童V型高甘油三酯血症是一种罕见病症,因为它常与肥胖、II型糖尿病、代谢综合征及激素治疗相关。我们遇到一例6岁男孩,患有严重高甘油三酯血症(1900毫克/分升),主诉急性胰腺炎,但无身体表现。无心脏性猝死家族史,发现其父亲和弟弟正常。然而,母亲患有高甘油三酯血症。该患儿通过饮食调整、服用ω-3胶囊及低剂量非诺贝特进行治疗。随访显示血脂谱有所降低,脂蛋白电泳图谱显示极低密度脂蛋白(VLDL)和乳糜微粒条带,提示为V型高脂血症。通过筛查此类患者及其家族的血脂谱进行早期诊断,可改善这些儿童的预后和生活质量。