Genotype-Phenotype Correlations in Pediatric Hereditary Pancreatitis: Evidence from a Romanian Retrospective Cohort

TL;DR

This study explores how genetic mutations in Romanian children with hereditary pancreatitis affect disease severity and progression.

Contribution

The study identifies specific genotype-phenotype correlations in pediatric hereditary pancreatitis patients from Romania.

Findings

PRSS1 gene variants correlate with earlier disease onset and increased severity.

Over half of the patients experienced surgical complications.

Many patients progressed to chronic pancreatitis during the study period.

Abstract

Objectives: This study aimed to evaluate the genetic and clinical characteristics of hereditary pancreatitis (HP) in a cohort of Romanian pediatric patients, with a focus on the correlation between specific gene mutations and disease severity, recurrence patterns, and associated complications. Methods: A retrospective analysis was conducted on pediatric patients diagnosed with HP. Genetic testing was performed to identify mutations in key genes. Clinical data were collected regarding age of onset, recurrence, severity, surgical interventions, and progression to chronic pancreatitis. Exploratory computational analyses were performed to illustrate potential patterns between genetic variants and clinical characteristics. Results: PRSS1 variants were associated with earlier onset and more severe disease. A substantial proportion of patients developed chronic pancreatitis during the study period. Surgical complications were observed in over half of the cohort. The findings are consistent with the role of genetic mutations in influencing the clinical trajectory of HP. Genotype–phenotype correlations may inform hypotheses regarding early risk stratification and tailored management strategies. Conclusions: Genetic testing is essential for the accurate diagnosis and personalized treatment of HP. Integrating genetic diagnostics into clinical practice may improve outcomes and guide early intervention in high-risk pediatric patients.

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