CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1610108
A Family Report of Hereditary Pancreatitis Caused by SPINK1 and PRSS1 Gene Mutation
Provisionally accepted
- Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China
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Hereditary pancreatitis (HP) is a rare genetic disorder of the pancreas. We report a case of a 20-year-old woman presenting with classic features of lean diabetes mellitus, chronic diarrhea, and diabetic ketoacidosis, but notably without abdominal pain.Imaging revealed pancreatic calcification. Genetic testing identified pathogenic compound mutations in SPINK1 (c.194+2T>C) and PRSS1 (c.623G>C), confirming a diagnosis of HP. Family screening showed her mother carried a homozygous SPINK1 mutation, while her siblings variably carried heterozygous SPINK1 and/or PRSS1 mutations. All family members with both variants-except the third sister-had pancreatic calcifications. Diabetes was observed in the proband, her mother, her first and second sisters. This case highlights that in patients under 25 years old presenting with lean body habitus, diarrhea or steatorrhea, poor islet function, and a family history of diabetes-despite lacking overt abdominal pain-HP should be considered as a differential diagnosis.
Keywords: Hereditary pancreatitis, Diabetes Mellitus, SPINK1 gene, PRSS1 gene, Pancreatitis
Received: 21 Apr 2025; Accepted: 29 May 2025.
Copyright: © 2025 Xu, Hu, Xiao, He, Zhang, Wang and Peng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ying Hu, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, Guizhou Province, China
Miao Zhang, Affiliated Hospital of Guizhou Medical University, Guiyang, 550004, Guizhou Province, China
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