Early-Onset and Rapidly Progressive Hereditary Pancreatitis Associated with PRSS1 Mutations in a Romanian Pediatric Cohort.

Objectives: CPRSS1-associated hereditary pancreatitis in children is characterized by early onset and rapid progression to chronic disease; however, data from Eastern European populations remain limited. This study aimed to evaluate disease severity, recurrence burden and progression to chronic pancreatitis in a Romanian pediatric cohort with PRSS1-associated hereditary pancreatitis. Materials and methods: We conducted a retrospective observational study that included pediatric patients with pathogenic or likely pathogenic PRSS1 mutations. Clinical variables analyzed comprised age at onset, number of acute pancreatitis episodes, disease severity, complications and progression to chronic pancreatitis. Descriptive statistics were used. Results: Five pediatric patients were included. All subjects developed recurrent acute pancreatitis. Patients with severe disease exhibited a higher recurrence burden compared to those with mild disease. Progression to chronic pancreatitis occurred in 80% of cases. Structural pancreatic changes and local complications were frequently observed. Conclusions: PRSS1-associated hereditary pancreatitis in children is characterized by early onset, high recurrence burden and frequent progression to chronic disease. Disease severity appears to be associated with recurrence burden, suggesting a more aggressive clinical phenotype in affected patients.