Work

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

Year: 2025

Type: article

Abstract: 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.

Source: Romanian Journal of Pediatrics

DOI: 10.37897/rjp.2025.3.3

Authors: Corina Dragu, Roxana Matran, Anca-Ioana Badarau, Cristina Becheanu

Institution: Carol Davila University of Medicine and Pharmacy

Language: English

Topic: Pancreatitis Pathology and Treatment

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $216