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Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Gabriela Hrčková1, Eszter Hegyi2, Katarína Skalická1
1Department of Pediatrics of the Faculty of Medicine, Comenius University and the National Institute of Children's Diseases, Bratislava, Slovakia.
Insights
This study reports the first pediatric case of chronic pancreatitis (CP) and autosomal dominant polycystic kidney disease (ADPKD) occurring together. Genetic analysis revealed mutations in both PKD1 and CTRC genes, highlighting a rare cause of pancreatitis in children.
Area of Science:
- Pediatric Gastroenterology
- Nephrology
- Medical Genetics
Background:
- Chronic pancreatitis (CP) in children is often linked to anatomical issues or genetic factors.
- Autosomal dominant polycystic kidney disease (ADPKD) can involve pancreatic cysts, potentially leading to pancreatitis.
- Pancreatitis in ADPKD patients without pancreatic cysts is unusual.
Observation:
- A 12-year-old girl presented with recurrent pancreatitis of unknown cause.
- Imaging ruled out structural pancreatic abnormalities, but bilateral cystic kidneys were incidentally found.
- Family history was positive for polycystic kidney disease.
Findings:
- Genetic testing confirmed ADPKD due to a novel mutation in the PKD1 gene.
- Homozygous pathogenic variant in the CTRC gene, a known CP risk factor, was identified.
- This case represents the first documented instance of co-occurring genetically determined CP and ADPKD in a child.
Implications:
- Pancreatitis in children with ADPKD, even without pancreatic cysts, warrants investigation for CP-associated gene mutations.
- This case expands the understanding of extrarenal manifestations of ADPKD.
- Highlights the importance of genetic testing for complex pediatric conditions.
Introduction:
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.
Case Presentation:
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.
Conclusion:
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.
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