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Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis

Joseph J Palermo1, Tom K Lin, Lindsey Hornung

  • 1From the Divisions of *Gastroenterology, Hepatology and Nutrition, †Biostatistics and Epidemiology, and ‡Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

Pancreas
|May 13, 2016
PubMed

Insights

Comprehensive genetic testing identified a higher rate of CFTR gene variants in pediatric patients with chronic pancreatitis (CP) compared to acute recurrent pancreatitis (ARP). This finding aids in differentiating these conditions.

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics
  • Pancreatic Diseases

Background:

  • Distinguishing between chronic pancreatitis (CP) and acute recurrent pancreatitis (ARP) in children is clinically challenging.
  • Genetic factors are implicated in the pathogenesis of pancreatitis, but their role in differentiating pediatric CP from ARP is not fully understood.

Purpose of the Study:

  • To evaluate the utility of comprehensive genetic testing in identifying distinct genetic variants between pediatric patients diagnosed with CP and ARP.
  • To determine if specific genetic mutations can serve as biomarkers to differentiate CP from ARP in a pediatric cohort.

Main Methods:

  • A retrospective review was conducted on 50 pediatric patients within an institutional pancreatitis registry.
  • Genetic analysis was performed on key pancreatitis-associated genes: PRSS1, CFTR, SPINK1, and CTRC.
  • Variants were classified, and their frequencies were compared between CP and ARP groups.

Main Results:

  • Genetic testing was successfully performed on 45 patients (16 CP, 29 ARP).
  • A total of 39 genetic variants were identified across 27 patients, with CFTR variants being the most frequent (38%).
  • CFTR variants were significantly more prevalent in the CP group (63%) compared to the ARP group (24%, P = 0.01).

Conclusions:

  • This study is the first to report a higher incidence of CFTR mutations in pediatric patients with chronic pancreatitis compared to those with acute recurrent pancreatitis.
  • Comprehensive genetic testing, particularly focusing on CFTR, shows promise in differentiating pediatric CP from ARP.
  • These findings underscore the importance of genetic evaluation in the diagnostic workup of pediatric pancreatitis.
Abstract

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