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

Xiaoyao LI; Jianfeng DUAN; Dacheng WANG; Xiancheng CHEN; Beiyuan ZHANG; Wenkui YU

doi:10.12449/JCH240222

Volume 40 Issue 2

Feb. 2024

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Article Navigation > Journal of Clinical Hepatology > 2024 > 40(2): 361-364

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

DOI: 10.12449/JCH240222

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)

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Corresponding author: YU Wenkui， yudrnj2@163.com （ORCID： 0000-0003-1298-8928）
Received Date: 2023-04-19
Accepted Date: 2023-07-04
Published Date: 2024-02-19

Abstract

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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References

[1]	DRON JS, WANG J, MCINTYRE AD, et al. The polygenic nature of mild-to-moderate hypertriglyceridemia[J]. J Clin Lipidol, 2020, 14( 1): 28- 34. DOI: 10.1016/j.jacl.2020.01.003.
[2]	MEDEROS MA, REBER HA, GIRGIS MD. Acute pancreatitis: A review[J]. JAMA, 2021, 325( 4): 382- 390. DOI: 10.1001/jama.2020.20317.
[3]	FORTSON MR, FREEDMAN SN, WEBSTER PD 3rd. Clinical assessment of hyperlipidemic pancreatitis[J]. Am J Gastroenterol, 1995, 90( 12): 2134- 2139.
[4]	CARR RA, REJOWSKI BJ, COTE GA, et al. Systematic review of hypertriglyceridemia-induced acute pancreatitis: A more virulent etiology?[J]. Pancreatology, 2016, 16( 4): 469- 476. DOI: 10.1016/j.pan.2016.02.011.
[5]	ZHENG Y, ZHOU Z, LI H, et al. A multicenter study on etiology of acute pancreatitis in Beijing during 5 years[J]. Pancreas, 2015, 44( 3): 409- 414. DOI: 10.1097/MPA.0000000000000273.
[6]	JIN M, BAI X, CHEN X, et al. A 16-year trend of etiology in acute pancreatitis: The increasing proportion of hypertriglyceridemia-associated acute pancreatitis and its adverse effect on prognosis[J]. J Clin Lipidol, 2019, 13( 6): 947- 953. DOI: 10.1016/j.jacl.2019.09.005.
[7]	LI XY, KE L, DONG J, et al. Significantly different clinical features between hypertriglyceridemia and biliary acute pancreatitis: A retrospective study of 730 patients from a tertiary center[J]. BMC Gastroenterol, 2018, 18( 1): 89. DOI: 10.1186/s12876-018-0821-z.
[8]	WU YQ, ZHAO JC. Predictive value of Ranson score in the classification of moderate to severe hyperlipidemia acute pancreatitis[J]. J Clin Exp Med, 2022, 21( 2): 222- 225. DOI: 10.3969/j.issn.1671-4695.2022.02.029. 吴永强, 赵景成. Ranson评分在高脂血症性急性胰腺炎病情严重程度评估中的应用价值[J]. 临床和实验医学杂志, 2022, 21( 2): 222- 225. DOI: 10.3969/j.issn.1671-4695.2022.02.029.
[9]	SU W, GUO F. Triglyceride-controlling during acute phase of hypertriglyceridemia induced pancreatitis[J]. Chin J Dig Surg, 2023, 22( 1): 89- 93. DOI: 10.3760/cma.j.cn115610-20221220-00755. 苏伟, 郭丰. 高甘油三酯血症性胰腺炎急性期的血脂控制[J]. 中华消化外科杂志, 2023, 22( 1): 89- 93. DOI: 10.3760/cma.j.cn115610-20221220-00755.
[10]	FAN JY, YAO Y, FENG L, et al. Relationship of serum creatinine, PLT and HCT with the severity and prognosis of hyperlipidemic acute pancreatitis[J]. J Clin Exp Med, 2023, 22( 10): 1049- 1052. DOI: 10.3969/j.issn.1671-4695.2023.10.011. 樊景云, 姚勇, 奉镭, 等. 高甘油三酯血症性急性胰腺炎患者血清肌酐、PLT和HCT水平与病情严重程度和预后的关系[J]. 临床和实验医学杂志, 2023, 22( 10): 1049- 1052. DOI: 10.3969/j.issn.1671-4695.2023.10.011.
[11]	LI XY, YANG Q, SHI XL, et al. Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis[J]. Lipids Health Dis, 2018, 17( 1): 144. DOI: 10.1186/s12944-018-0789-2.
[12]	BASEL-VANAGAITE L, ZEVIT N, ZAHAV AH, et al. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1[J]. Am J Hum Genet, 2012, 90( 1): 49- 60. DOI: 10.1016/j.ajhg.2011.11.028.
[13]	OU XJ, JI CN, HAN XQ, et al. Crystal structures of human glycerol 3-phosphate dehydrogenase 1(GPD1)[J]. J Mol Biol, 2006, 357( 3): 858- 869. DOI: 10.1016/j.jmb.2005.12.074.
[14]	POLCHAR L, VALLABHANENI P. Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis[J]. BMJ Case Rep, 2022, 15( 4): e246369. DOI: 10.1136/bcr-2021-246369.
[15]	LI JQ, XIE XB, FENG JY, et al. A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: A case report[J]. BMC Gastroenterol, 2018, 18( 1): 96. DOI: 10.1186/s12876-018-0827-6.
[16]	DIONISI-VICI C, SHTEYER E, NICETA M, et al. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency[J]. J Inherit Metab Dis, 2016, 39( 5): 689- 695. DOI: 10.1007/s10545-016-9956-7.
[17]	JOSHI M, EAGAN J, DESAI NK, et al. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia[J]. Eur J Hum Genet, 2014, 22( 10): 1229- 1232. DOI: 10.1038/ejhg.2014.8.
[18]	LI N, CHANG GY, XU YF, et al. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature[J]. Am J Med Genet A, 2017, 173( 12): 3189- 3194. DOI: 10.1002/ajmg.a.38473.
[19]	LIN HH, FANG YH, HAN L, et al. Case report: Identification of a novel homozygous mutation in GPD1 gene of a Chinese child with transient infantile hypertriglyceridemia[J]. Front Genet, 2021, 12: 726116. DOI: 10.3389/fgene.2021.726116.
[20]	MATARAZZO L, RAGNONI V, MALAVENTURA C, et al. Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency[J]. JIMD Rep, 2020, 54( 1): 25- 31. DOI: 10.1002/jmd2.12125.
[21]	WANG J, SUN F, XU PF, et al. Transient infantile hypertriglyceridemia with jaundice: A case report[J]. Medicine, 2021, 100( 17): e25697. DOI: 10.1097/MD.0000000000025697.
[22]	KUMAR P, SHARMA S. Transient infantile hypertriglyceridemia and hepatic steatosis in an infant with GPD1 mutation[J]. Indian J Pediatr, 2021, 88( 5): 495- 496. DOI: 10.1007/s12098-021-03663-2.
[23]	TESAROVA M, STRANECKY V, KONECNA P, et al. GPD1 deficiency-underdiagnosed cause of liver disease[J]. Indian J Pediatr, 2021, 88( 1): 80- 81. DOI: 10.1007/s12098-020-03385-x.
[24]	XIE XB, LI MP, WANG JS. Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review[J]. Chin J Pediatr, 2020, 58( 11): 923- 927. DOI: 10.3760/cma.j.cn112140-20200411-00375. 谢新宝, 李梦萍, 王建设. GDP1基因缺陷导致婴儿暂时性高甘油三酯血症二例并文献复习[J]. 中华儿科杂志, 2020, 58( 11): 923- 927. DOI: 10.3760/cma.j.cn112140-20200411-00375.
[25]	MA PF, LI WQ, CHEN L, et al. A case of transient infantile hypertriglyceridemia caused by mutations in the glycerol-3-phosphate dehydrogenase 1 gene[J]. Chin J Hepatol, 2021, 29( 10): 1014- 1016. DOI: 10.3760/cma.j.cn501113-20210122-00040. 马鹏飞, 李王强, 陈莲, 等. 3-磷酸甘油脱氢酶1基因突变致婴儿期短暂性高甘油三酯血症1例[J]. 中华肝脏病杂志, 2021, 29( 10): 1014- 1016. DOI: 10.3760/cma.j.cn501113-20210122-00040.

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

DOI: 10.12449/JCH240222

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

DOI: 10.12449/JCH240222

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