Genetically influenced pediatric chronic pancreatitis: Radiologic perspectives

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Daldaban Sarica B., KARAMAN Z. F., ALTAY D., ARSLAN D.

WORLD JOURNAL OF GASTROENTEROLOGY, cilt.32, sa.38, 2026 (SCI-Expanded, Scopus)

Özet

BACKGROUND Genetic factors are widely recognized as major contributors to the etiology of chronic pancreatitis in the pediatric population. Variants in CFTR, PRSS1, PRSS2, SPINK1, CTRC, and CASR may be associated with specific radiologic findings involving the pancreatic parenchyma or ductal architecture and may influence clinical phenotype and disease course through effects on pancreatic enzyme secretion, ductal function, and inflammatory responses. AIM To compare clinical and radiologic findings among pediatric patients with chronic pancreatitis according to genetic subtype. METHODS Data from 18 pediatric patients with genetically defined chronic pancreatitis were retrospectively reviewed. Patients with genetic variants were categorized into three exploratory groups: CFTR, CTRC/PRSS1, and SPINK1. Collected data included demographic and clinical characteristics, identified variants, cross-sectional imaging findings [magnetic resonance imaging (MRI) and/or computed tomography (CT)], and laboratory results. All radiologic images were evaluated by a pediatric radiologist using predefined descriptive criteria. Given the small sample size and retrospective design, all analyses were considered exploratory. RESULTS Pancreatic atrophy was detected more frequently on MRI and CT in the CFTR (88.9%) and CTRC/PRSS1 (80.0%) groups. Median amylase levels were highest in the CTRC/PRSS1 group [median: 1655 (790-3000)]. The SPINK1 group showed nominally higher serum calcium levels (P = 0.021); however, this comparison was based on a small subgroup, and multiple subgroup comparisons were performed. CONCLUSION These exploratory findings suggest that radiologic and biochemical features may vary according to genetic background in pediatric chronic pancreatitis. Larger prospective studies with standardized imaging assessment are needed to validate these observations.