Case Report: Cystic fibrosis transmembrane conductance regulator gene heterozygous variation presenting with abdominal pain and hepatopancreatic lesions in a child.

ABSTRACT:

Background

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.

Case report

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 cm 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 >3 times the upper limit of normal). Abdominal ultrasound demonstrated diffuse hepatic lesions and uneven echogenicity in pancreatic parenchyma. Computed t

SUBMITTER: Lu X 

PROVIDER: S-EPMC12916658 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature