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急性胰腺炎:遗传风险与临床意义

Acute Pancreatitis: Genetic Risk and Clinical Implications.

作者信息

Weiss Frank U, Laemmerhirt Felix, Lerch Markus M

机构信息

Department of Medicine A, University Medicine Greifswald, 17475 Greifswald, Germany.

出版信息

J Clin Med. 2021 Jan 7;10(2):190. doi: 10.3390/jcm10020190.

DOI:10.3390/jcm10020190
PMID:33430357
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7825757/
Abstract

Acute pancreatitis (AP) is one of the most common gastroenterological indications for emergency admittance and hospitalization. Gallstones, alcohol consumption or the presence of additional initiating factors give rise to a disease with a diverse clinical appearance and a hard-to predict course of progression. One major challenge in the treatment of AP patients is the early identification of patients at risk for the development of systemic complications and organ failure. In addition, 20%-30% of patients with a first episode of AP later experience progress to recurrent or chronic disease. Complex gene-environment interactions have been identified to play a role in the pathogenesis of pancreatitis, but so far no predictive genetic biomarkers could be implemented into the routine clinical care of AP patients. The current review explains common and rare etiologies of acute pancreatitis with emphasis on underlying genetic aberrations and ensuing clinical management.

摘要

急性胰腺炎(AP)是急诊入院和住院最常见的胃肠病学指征之一。胆结石、饮酒或存在其他诱发因素会引发一种临床表现多样且病情发展难以预测的疾病。治疗AP患者的一个主要挑战是早期识别有发生全身并发症和器官衰竭风险的患者。此外,首次发作AP的患者中有20%-30%随后会进展为复发性或慢性疾病。已确定复杂的基因-环境相互作用在胰腺炎的发病机制中起作用,但到目前为止,还没有预测性基因生物标志物可应用于AP患者的常规临床护理。本综述解释了急性胰腺炎的常见和罕见病因,重点是潜在的基因异常及后续的临床管理。

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Gut. 2020 Sep 28. doi: 10.1136/gutjnl-2020-322864.
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Genetic Variants Associated With Increased Plasma Levels of Triglycerides, via Effects on the Lipoprotein Lipase Pathway, Increase Risk of Acute Pancreatitis.与脂蛋白脂酶通路相关的可增加甘油三酯血浆水平的遗传变异增加急性胰腺炎风险。
Clin Gastroenterol Hepatol. 2021 Aug;19(8):1652-1660.e6. doi: 10.1016/j.cgh.2020.08.016. Epub 2020 Aug 12.
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Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation.遗传性慢性胰腺炎患者及其家属对基因检测的看法:定性三角分析。
Eur J Hum Genet. 2021 Jan;29(1):29-38. doi: 10.1038/s41431-020-00705-9. Epub 2020 Aug 12.
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Executive summary: WSES Guidelines for the management of severe acute pancreatitis.执行摘要:WSES 严重急性胰腺炎管理指南
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Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.Meta 分析和遗传变异与急性胰腺炎风险和严重程度相关的现场综述。
BJS Open. 2020 Feb;4(1):3-15. doi: 10.1002/bjs5.50231. Epub 2019 Dec 3.
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