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

Corina Valentina Dragu1, Antoaneta Punga1, Alexandra Coroleuca1,2

  • 1"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

Maedica
|July 8, 2026
PubMed

Insights

Hereditary pancreatitis in children linked to PRSS1 mutations shows early onset and rapid progression to chronic disease. Severe cases have higher recurrence rates, with 80% progressing to chronic pancreatitis.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Gastroenterology
  • Hereditary Diseases

Background:

  • Hereditary pancreatitis in children, particularly PRSS1-associated, presents early and progresses rapidly.
  • Limited data exists on Eastern European pediatric cohorts with PRSS1 mutations.

Purpose of the Study:

  • Evaluate disease severity, recurrence burden, and progression to chronic pancreatitis.
  • Analyze a Romanian pediatric cohort with PRSS1-associated hereditary pancreatitis.

Main Methods:

  • Retrospective observational study of pediatric patients with pathogenic/likely pathogenic PRSS1 mutations.
  • Analysis of clinical variables: age at onset, pancreatitis episodes, severity, complications, and progression.
  • Descriptive statistical analysis.

Main Results:

  • Five pediatric patients with PRSS1 mutations were included, all experiencing recurrent acute pancreatitis.
  • Severe disease cases showed a higher recurrence burden than mild cases.
  • Eighty percent of patients progressed to chronic pancreatitis, with frequent structural changes and local complications.

Conclusions:

  • PRSS1-associated hereditary pancreatitis in children is marked by early onset, high recurrence, and frequent progression to chronic disease.
  • Disease severity correlates with recurrence burden, indicating a more aggressive phenotype.
Abstract

Keywords:
PRSS1Romaniachronic pancreatitisdisease progressionhereditary pancreatitispediatric pancreatitis

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