The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians

Pancreas. 2011 May;40(4):517-21. doi: 10.1097/MPA.0b013e318214fe42.


Objectives: To assess specific etiologies of acute recurrent pancreatitis at a single Italian pediatric cystic fibrosis (CF) center.

Methods: We studied, retrospectively, 78 young patients (39 female subjects; mean age at diagnosis, 8.8 ± 5.1 years) affected by acute recurrent episodes of pancreatitis, remained etiologically undiagnosed at first-level assessment. All patients were submitted to endoscopic retrograde cholangiopancreatography to exclude biliopancreatic malformations and tested for CF by a sweat chloride test. Most patients also were studied for the research of CFTR, PRSS1, and SPINK1 gene mutations.

Results: A high percentage of family history for chronic pancreatitis was observed (20.5%). The sweat test identified 8 subjects (10.3%) with classic CF (2 patients) or at risk for CF (6 patients). Genetic analysis showed mutations in CFTR, SPINK1, and PRSS1 genes in 39.6%, 7.1%, and 4.5% of patients, respectively. A biliopancreatic malformation was diagnosed in 15 patients (19.2%). We also observed biliary lithiasis (5 patients [6.5%]), congenital pancreatic polycystosis (2 patients), a case of dyslipidemia, and 1 patient with a posttransplantation, drug-induced pancreatitis.

Conclusions: Recurrent pancreatitis in children has several etiologies. Genetic testing confirms the high frequency of CFTR mutations. This suggests that it is of some value to identify patients with late-onset CF and CFTR-related disorders.

MeSH terms

  • Acute Disease
  • Adolescent
  • Carrier Proteins / genetics
  • Child
  • Child, Preschool
  • Cholangiopancreatography, Endoscopic Retrograde
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Infant
  • Male
  • Mutation
  • Pancreatitis / diagnosis*
  • Pancreatitis / etiology
  • Pancreatitis / genetics
  • Pediatrics / methods*
  • Recurrence
  • Retrospective Studies
  • Risk Factors
  • Trypsin / genetics
  • Trypsin Inhibitor, Kazal Pancreatic


  • Carrier Proteins
  • SPINK1 protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Trypsin Inhibitor, Kazal Pancreatic
  • PRSS1 protein, human
  • Trypsin