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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 40 Issue 2
Feb.  2024
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Article Contents

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
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)
  • Received Date: 2023-04-19
  • Accepted Date: 2023-07-04
  • Published Date: 2024-02-19
  • 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.

     

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