{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T11:14:26Z","timestamp":1788779666772,"version":"build-2803163510"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T00:00:00Z","timestamp":1758585600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>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&amp;gt;C) and PRSS1 (c.623G&amp;gt;C), confirming a diagnosis of HP. Family screening showed her mother carried a homozygous <jats:italic>SPINK1<\/jats:italic> mutation, while her siblings variably carried heterozygous <jats:italic>SPINK1<\/jats:italic> and\/or <jats:italic>PRSS1<\/jats:italic> mutations. All family members with both variants, except the third sister, had pancreatic calcifications. Diabetes was observed in the proband, her mother, and her first and second sisters. This case highlights that in patients under 25\u00a0years of age presenting with lean body habitus, diarrhea or steatorrhea, poor islet function, and a family history of diabetes\u2014despite lacking overt abdominal pain\u2014HP should be considered as a differential diagnosis.<\/jats:p>","DOI":"10.3389\/fgene.2025.1610108","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T08:28:55Z","timestamp":1758616135000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations"],"prefix":"10.3389","volume":"16","author":[{"given":"Jing","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banghui","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nianchun","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1053\/j.gastro.2020.03.088","article-title":"AGA clinical practice update on pancreas cancer screening in high-risk individuals: expert review","volume":"159","author":"Aslanian","year":"2020","journal-title":"Gastroenterology"},{"key":"B2","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1038\/75977","article-title":"Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome","volume":"25","author":"Chavanas","year":"2000","journal-title":"Nat. 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