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

李孝尧; 段剑锋; 王大成; 陈显成; 张北源; 虞文魁

doi:10.12449/JCH240222

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

DOI: 10.12449/JCH240222

南京大学医学院附属鼓楼医院重症医学科，南京 210008

基金项目:

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)

伦理学声明：本例报告已获得患者知情同意。

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：李孝尧、王大成负责课题设计，患者随访，撰写论文；段剑锋负责数据收集分析，采集血样；陈显成、张北源参与临床诊疗，修改论文；虞文魁负责指导论文撰写并最后定稿。

详细信息

通信作者:
虞文魁， yudrnj2@163.com （ORCID： 0000-0003-1298-8928）

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出版历程
- 收稿日期: 2023-04-19
- 录用日期: 2023-07-04
- 出版日期: 2024-02-19

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

Department of Critical Care Medicine，The Affiliated Drum Tower Hospital of Nanjing University Medical School，Nanjing 210008，China

Research funding:

National Natural Science Foundation of China (81927808);

Double-Innovation Doctor of Jiangsu Province (［2020］30138);

Fundings for Clinical Trials from the Affiliated Drum Tower Hospital (2021-LCYJ-PY-40)

More Information

Corresponding author: YU Wenkui， yudrnj2@163.com （ORCID： 0000-0003-1298-8928）

摘要

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。
- 高甘油三酯血症 /
- 胰腺炎 /
- 甘油磷酸脱氢酶 /
- 突变
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.
- Hypertriglyceridemia /
- Pancreatitis /
- Glycerolphosphate Dehydrogenase /
- Mutation

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图 1 患者既往HTG-AP病史、TG水平及治疗情况

Figure 1. Details of TG levels and disease time points of the proband

下载: 全尺寸图片幻灯片

图 2 Sanger测序结果

注：患者GPD1基因c.981位点由G突变为C（箭头所示），即GPD1杂合突变p.K327N（c.981G>C）。

Figure 2. The GPD1 gene partial nucleotide sequences of the proband

下载: 全尺寸图片幻灯片

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