BACKGROUND
Recurrent acute pancreatitis in children requires systematic evaluation for structural, metabolic, autoimmune, and genetic etiologies. When standard etiologic evaluation is unrevealing, phenotype-driven pancreatitis-panel testing may identify clinically relevant CFTR-associated findings, even in children without classical cystic fibrosis features.
CASE REPORT
We report a 7-year-old Vietnamese girl with four episodes of acute pancreatitis over 3 years, beginning at 4 years of age. Each episode required hospitalization and resolved completely with conservative treatment. She had no recurrent respiratory infections, chronic cough, chronic diarrhea, steatorrhea, or failure to thrive. During the fourth episode, magnetic resonance imaging showed acute pancreatitis with pancreatic enlargement and a 10-mm peripancreatic fluid collection, without pancreatic duct dilation, biliary dilation, or pancreaticobiliary malformation. Serum calcium and triglycerides were normal, autoimmune investigations were unremarkable, and fecal elastase indicated preserved exocrine pancreatic function. Targeted next-generation sequencing using a pancreatitis-associated gene panel identified a heterozygous CFTR splice-site region variant, NM_000492.4:c.1210-11T>G, classified by the diagnostic laboratory as likely pathogenic and confirmed by Sanger sequencing. A heterozygous SPINK1 p.Asn34Ser variant, classified as a variant of uncertain significance, was also detected. No further pancreatitis requiring hospitalization was documented during 12 months of follow-up.
CONCLUSIONS
This case illustrates that phenotype-driven pancreatitis-panel testing may identify clinically relevant CFTR-associated findings in children with recurrent acute pancreatitis after standard evaluation is unrevealing. The identified CFTR variant supports a possible CFTR-related contribution to a pancreas-predominant phenotype but should be interpreted as hypothesis-supporting rather than establishing causality in the absence of sweat chloride testing, functional studies, and parental segregation analysis.

Keywords: Case Reports; Child; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Testing; High-Throughput Nucleotide Sequencing; Pancreatitis