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Genetic Mutations in Pediatric Pancreatitis

Padade M Vue1, Kim McFann, Michael R Narkewicz

  • 1From the *Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado; and †University of Colorado School of Public Health, Aurora, CO.

Pancreas
|December 23, 2015
PubMed

Insights

Genetic mutations in PRSS1, CFTR, or SPINK1 are found in one-third of children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). These mutations did not alter clinical features or outcomes but were linked to a family history of pancreatitis.

Area of Science:

  • Pediatric Gastroenterology
  • Genetics
  • Pancreatology

Background:

  • Acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) in children can be associated with genetic predispositions.
  • Identifying genetic mutations like PRSS1, CFTR, and SPINK1 is crucial for understanding the etiology of pediatric pancreatitis.

Purpose of the Study:

  • To determine the prevalence, characteristics, and outcomes of pediatric ARP and CP.
  • To investigate the association between genetic mutations (PRSS1, CFTR, SPINK1) and clinical presentation or outcomes in children with pancreatitis.

Main Methods:

  • Retrospective chart review of 91 children diagnosed with ARP or CP.
  • Data collected included demographics, clinical features, management, and outcomes.
  • Genetic testing for PRSS1, CFTR, and SPINK1 mutations was analyzed.

Main Results:

  • Thirty-three percent (33%) of pediatric pancreatitis cases had at least one mutation (Pan-Mut) in PRSS1, CFTR, or SPINK1.
  • No significant differences in clinical features, imaging, or outcomes were observed between the Pan-Mut group and the no-mutation group.
  • A family history of pancreatitis was more common in the Pan-Mut group.

Conclusions:

  • Genetic mutations in CFTR, SPINK1, or PRSS1 are identified in a significant portion of pediatric ARP and CP cases without other identifiable causes.
  • Genetic testing is recommended for pediatric ARP and CP cases where the cause is not apparent.
  • The presence of these mutations does not appear to influence the clinical course or outcomes of pediatric pancreatitis.
Abstract

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