Recurrent acute pancreatitis in a child with CPA1 variant: a case report and review of the literature

Background. Hereditary pancreatitis (HP) is a rare cause of acute recurrent pancreatitis (ARP) in children. While PRSS1 and SPINK1 mutations are frequently implicated, CPA1 variants are emerging as important contributors, although their pathogenicity remains under debate. Case presentation. We report the case of an 11-year-old girl with a heterozygous CPA1 variant (c.1145G>A, p.Arg382Gln), who experienced 16 episodes of ARP since age 5. Episodes presented with severe epigastric pain, vomiting and anorexia. Amylase (438–2189 U/L) and lipase (1647–4949 U/L) levels were elevated during flares. Ultrasound and CT confirmed pancreatic enlargement with heterogeneous texture and peripancreatic fluid collections. Management included bowel rest, intravenous fluids, antibiotics, and proton pump inhibitors, with complete resolution of symptoms and enzyme levels in 48–72 hours. No chronic complications or endocrine/exocrine insufficiency were observed. Conclusions. CPA1 mutations should be considered in children with idiopathic ARP. Larger studies are needed to clarify genotype-phenotype correlations and management strategies.