{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:34:45Z","timestamp":1771929285436,"version":"3.50.1"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"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>Background<\/jats:title>\n                    <jats:p>Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to multi-system involvement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case report<\/jats:title>\n                    <jats:p>A 4-year-old girl presented with a 2-day history of abdominal pain. Clinical manifestations included recurrent epigastric pain and vomiting. Physical examination revealed abdominal distension, mild periumbilical tenderness, and hepatomegaly (liver palpable 4\u2005cm below the right costal margin). Laboratory tests showed elevated pancreatic enzymes: serum amylase 607 U\/L, lipase 634 U\/L, and pancreatic amylase 252 U\/L (all &amp;gt;3 times the upper limit of normal). Abdominal ultrasound demonstrated diffuse hepatic lesions and uneven echogenicity in pancreatic parenchyma. Computed tomography revealed chronic liver disease changes, possible cirrhosis and a slightly enlarged spleen. Hepatobiliary histopathological biopsy indicated biliary obstruction. Whole-exome sequencing identified CFTR allele variants c.3139G\u2009&amp;gt;\u2009T (paternal source) and c.1409T\u2009&amp;gt;\u2009A (maternal source). Comparative analysis with the existing literature verified that the G\u2009&amp;gt;\u2009T mutation at chromosome 7 (chr7):117250723 was previously unreported. Treatment with octreotide, omeprazole, and pancreatic enzyme replacement therapy led to symptom resolution. At follow-up, her condition remained stable: height=109\u2005cm (10th to 25th percentile), weight=18.8\u2005kg (25th to 50th percentile) and stable condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The clinical manifestations of CF are diverse, and digestive tract symptoms are common; therefore, early identification and diagnosis are required. As chr7: 117250723 G\u2009&amp;gt;\u2009T may be a pathogenic gene, long-term follow-up is needed.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2025.1707993","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T06:45:22Z","timestamp":1770273922000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Cystic fibrosis transmembrane conductance regulator gene heterozygous variation presenting with abdominal pain and hepatopancreatic lesions in a child"],"prefix":"10.3389","volume":"13","author":[{"given":"Xiu","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University","place":["Nanning, Guangxi, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lidong","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, National 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