{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:23:32Z","timestamp":1787027012023,"version":"build-2736575974"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:00:00Z","timestamp":1768262400000},"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. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      This report presents a rare case of congenital diarrhea and enteropathies in a Chinese infant caused by a heterozygous mutation in the\n                      <jats:italic>GUCY2C<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A male infant was born prematurely with a history of polyhydramnios and prenatal intestinal dilation. He developed persistent abdominal distension, secretory diarrhea, metabolic acidosis, severe electrolyte imbalances, and failure to thrive. Whole-exome sequencing identified a heterozygous mutation in\n                      <jats:italic>GUCY2C<\/jats:italic>\n                      (c.2356T\u2009&amp;gt;\u2009C, p.Y786H), classified as likely pathogenic. The patient also exhibited intestinal malrotation but did not require surgical intervention. Management included total parenteral nutrition, transition to an amino acid-based formula, and extensive electrolyte supplementation. At the 72-month follow-up, he exhibited normal growth and complete resolution of gastrointestinal symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      A heterozygous mutation in the\n                      <jats:italic>GUCY2C<\/jats:italic>\n                      gene (c.2356T\u2009&amp;gt;\u2009C) was identified as the cause of this rare congenital diarrheal disorder. These findings emphasize the essential function of genetic testing in children with chronic, treatment-refractory diarrhea and highlight the potential for excellent long-term outcomes with suitable supportive care.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2025.1649272","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T06:35:44Z","timestamp":1768286144000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital diarrhea and enteropathies caused by a heterozygous mutation in the GUCY2C gene: a rare case 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