{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T12:11:29Z","timestamp":1778155889602,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T00:00:00Z","timestamp":1769472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T00:00:00Z","timestamp":1769472000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman\u2013Diamond syndrome. The\n                    <jats:italic>SPINK1<\/jats:italic>\n                    gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue. Heterozygous pathogenic\n                    <jats:italic>SPINK1<\/jats:italic>\n                    variants are known to predispose individuals to hereditary pancreatitis. We report two cases of severe exocrine pancreatic insufficiency without signs of pancreatitis, caused by the same\n                    <jats:italic>SPINK1<\/jats:italic>\n                    pathogenic variant in siblings, each presenting with distinct initial clinical manifestations, including one patient with biochemical signs of hepatocellular dysfunction. Patient 1 was enrolled in a rapid whole genome sequencing study, which promptly identified a homozygous loss\u2010of\u2010function variant in\n                    <jats:italic>SPINK1<\/jats:italic>\n                    (c.27delC). To our knowledge, this specific variant has not been previously reported in association with exocrine pancreatic insufficiency, providing new insights into the disease's pathophysiology. This case also underscores the utility of rapid whole genome sequencing in facilitating timely diagnosis and management.\n                  <\/jats:p>","DOI":"10.1002\/jpr3.70145","type":"journal-article","created":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T11:14:45Z","timestamp":1769512485000},"page":"370-373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Infantile exocrine pancreatic insufficiency due to a homozygous\n                    <i>SPINK1<\/i>\n                    pathogenic variant in two siblings: A case report"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7911-0471","authenticated-orcid":false,"given":"France","family":"Chalon","sequence":"first","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang\u00e9lique","family":"Lhomme","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"L\u00e9onard","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Zambelli","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serpil","family":"Alkan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"},{"name":"Department of Genetics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Fasquelle","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aim\u00e9","family":"Lumaka","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"},{"name":"Reference Centre for Rare and Undiagnosed Diseases, Centre for Human Genetics, Faculty of Medicine University of Kinshasa Kinshasa DR Congo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Debray","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Bours","sequence":"additional","affiliation":[{"name":"Department of Genetics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Fr\u00e8re","sequence":"additional","affiliation":[{"name":"Division of Infectiology, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emeline","family":"Bequet","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University Hospital Li\u00e8ge and University of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.909925"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2021.101782"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.5409\/wjcp.v11.i1.27"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24044003"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9212"},{"issue":"3","key":"e_1_2_7_8_1","first-page":"258","article-title":"Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred","volume":"13","author":"LaRusch 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