In children, chronic pancreatitis (CP) is usually associated with anatomical anomalies
of the pancreas and biliary tract or is genetically determined. Autosomal dominant
polycystic kidney disease (ADPKD) may present with extrarenal cyst formation, sometimes
involving the pancreas. Large enough, these cysts may cause pancreatitis in ADPKD
patients.Herein, we present a case of a 12-year-old Caucasian girl with recurrent
pancreatitis with no identifiable traumatic, metabolic, infectious, drug, or immunologic
causes. Structural anomalies of the pancreas, including cysts, were ruled out by imaging.
However, bilateral cystic kidneys were found as an incidental finding. Her family
history was negative for pancreatitis, but positive for polycystic kidney disease.
Molecular analysis of ADPKD-causing mutations revealed a novel c.9659C>A (p.Ser3220*)
mutation in the PKD1 gene confirming the clinical suspicion of ADPKD. Although CP
may rarely occur as an extrarenal manifestation of ADPKD with pancreatic cysts, it
is unusual in their absence. Thus, molecular analysis of pancreatitis susceptibility
genes was performed and a homozygous pathologic c.180C>T (p.G60=) variant of the CTRC
gene, known to increase the risk of CP, was confirmed.This is the first reported case
of a pediatric patient with coincidence of genetically determined CP and ADPKD. Occurrence
of pancreatitis in children with ADPKD without pancreatic cysts warrants further investigation
of CP causing mutations.