首页|GPD1基因新发突变p.K327N致高甘油三酯血症性急性胰腺炎反复发作1例报告

GPD1基因新发突变p.K327N致高甘油三酯血症性急性胰腺炎反复发作1例报告

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高甘油三酯血症为我国急性胰腺炎的第二大病因,可以由原发性因素即基因突变引起,所导致的高甘油三酯血症性急性胰腺炎(HTG-AP)易反复发作,且甘油三酯水平难以有效控制.本文报道了1例罹患8次HTG-AP的中国成年男性患者,发现其携带GPD1新发杂合突变p.K327N,可能导致甘油三酯水平持续较高及HTG-AP反复发作.
Recurrent hypertriglyceridemic acute pancreatitis in an adult patient caused by the de novo mutation of p.K327N in the GPD1 gene:A case report
Hypertriglyceridemia(HTG)is the second leading cause of acute pancreatitis in China and can be caused by primary factors,namely gene mutations,which may lead to recurrent hypertriglyceridemic acute pancreatitis(HTG-AP)and difficulties in effective control of triglyceride.This article reports an adult Chinese male patient who experienced eight attacks of HTG-AP and was found to carry a de novo heterozygous mutation,p.K327N,of the GPD1 gene,which may cause the persistent high level of triglyceride and recurrent attacks of HTG-AP.

HypertriglyceridemiaPancreatitisGlycerolphosphate DehydrogenaseMutation

李孝尧、段剑锋、王大成、陈显成、张北源、虞文魁

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南京大学医学院附属鼓楼医院重症医学科, 南京 210008

高甘油三酯血症 胰腺炎 甘油磷酸脱氢酶 突变

国家自然科学基金江苏省"双创博士"课题南京鼓楼医院临床研究专项

81927808[2020]301382021-LCYJ-PY-40

2024

临床肝胆病杂志
吉林大学

临床肝胆病杂志

CSTPCD北大核心
影响因子:1.428
ISSN:1001-5256
年,卷(期):2024.40(2)
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