脂蛋白脂酶基因突变致儿童高三酰甘油血症性胰腺炎一例报道并文献复习

doi:10.12114/j.issn.1007-9572.2020.00.610

摘要/Abstract

摘要： 高三酰甘油血症性胰腺炎（HTGP）常发生在伴有血脂异常（包括Ⅰ型、Ⅳ型及Ⅴ型血脂异常）的患者中，或继发于其他疾病。虽然HTGP的临床症状与其他病因引起的急性胰腺炎相似，但HTGP常与更严重的临床症状和并发症有关，因此需加强对该病的认识。本文报道了1例脂蛋白脂酶基因突变所致儿童HTGP病例并复习了相关文献，建议对疑似该病患者早期进行基因检测，以为临床早期诊治提供参考及更好地改善患者预后。

关键词: 胰腺炎；高甘油三酯血症；脂蛋白脂酶；基因检测；突变, 误义；LPL基因；乳糜微粒；病例报告

Abstract: Hypertriglyceridemic pancreatitis（HTGP）often occurs in patients with dyslipidemia（including types Ⅰ，Ⅳ and Ⅴ） or secondary to other diseases.Although the clinical symptoms of HTGP are similar to those of acute pancreatitis caused by other etiologies，HTGP is often associated with more severe clinical symptoms and complications，thus it is necessary to improve the awareness of this disease.In this paper，we reported a child with HTGP caused by lipoprotein lipase gene mutation and reviewed relevant studies，and recommended that genetic testing should be performed early for patients with suspected HTGP，to provide a reference for clinical early diagnosis and treatment，as well as the improvement of prognosis of this disease.

Key words: Pancreatitis；Hypertriglyceridemia；Lipoprotein lipase；Genetic testing；Mutation, missense； LPL gene；Chylomicrons；Case reports

许锦平,白海涛,姚拥华,等. 脂蛋白脂酶基因突变致儿童高三酰甘油血症性胰腺炎一例报道并文献复习[J]. 中国全科医学, 2021, 24(21): 2752-2756. DOI: 10.12114/j.issn.1007-9572.2020.00.610.
XU Jinping,BAI Haitao,YAO Yonghua, et al. Hypertriglyceridemic Pancreatitis Caused by Lipoprotein Lipase Gene Mutation in Children：a Case Report and Literature Review　[J]. Chinese General Practice, 2021, 24(21): 2752-2756. DOI: 10.12114/j.issn.1007-9572.2020.00.610.

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