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

VernacularTitle: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
Author: Xiaoyao LI ¹ ; Jianfeng DUAN ¹ ; Dacheng WANG ¹ ; Xiancheng CHEN ¹ ; Beiyuan ZHANG ¹ ; Wenkui YU ¹
Author Information

1. Department of Critical Care Medicine， The Affiliated Drum Tower Hospital of Nanjing University Medical School， Nanjing 210008， China
Publication Type:Case Reports
Keywords: Hypertriglyceridemia; Pancreatitis; Glycerolphosphate Dehydrogenase; Mutation
From: Journal of Clinical Hepatology 2024;40(2):361-364
CountryChina
Language:Chinese
Abstract: 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.