Case report uncovers a de novo PRSS1 mutation in pediatric chronic pancreatitis, highlighting the value of genetic testing even without family history.
Key Points
To report a rare presentation of pediatric hereditary pancreatitis caused by a de novo PRSS1 p.Asn29Ile mutation in a patient without a family history of pancreatitis.
Diagnostic workup excluding metabolic, autoimmune, structural, and infectious causes in an 11-year-old female presenting with recurrent acute and chronic pancreatitis.
Targeted genetic screening evaluating pathogenic variants in PRSS1, SPINK1, CFTR, CTRC, and CPA1 genes.
Identified a heterozygous pathogenic PRSS1 c.86A>T (p.Asn29Ile) variant, consistent with a de novo mutation given the absence of familial inheritance.
Pancreatic enzyme replacement therapy combined with dietary modifications reduced attack frequency and preserved physical growth.