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  

Recurrent hypertriglyceridemic acute pancreatitis in an adult patient caused by the de novo mutation of p.K327N in the GPD1 gene:A case report

作　　者：李孝尧 段剑锋 王大成 陈显成[1] 张北源[1] 虞文魁 LI Xiaoyao;DUAN Jianfeng;WANG Dacheng;CHEN Xiancheng;ZHANG Beiyuan;YU Wenkui(Department of Critical Care Medicine,The Affiliated Drum Tower Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院重症医学科,南京210008

出　　处：《临床肝胆病杂志》2024年第2期361-364,共4页Journal of Clinical Hepatology

基　　金：国家自然科学基金(81927808);江苏省“双创博士”课题([2020]30138);南京鼓楼医院临床研究专项资金(2021-LCYJ-PY-40)。

摘　　要：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。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.

关 键 词：高甘油三酯血症 胰腺炎 甘油磷酸脱氢酶 突变 

分 类 号：R576[医药卫生—消化系统]