Pancreas: Genetic & Autoimmune Pancreatitis

Hereditary Pancreatitis

• Autosomal Dominant
• PRSS1 Mutation – Cationic Trypsinogen Gene
• Presentation: Recurrent Acute Pancreatitis in Pediatrics & Chronic Pancreatitis in Adults
  • High Risk for Pancreatic CA
• Diagnosis: Genetic Testing
• Treatment: Same as Chronic Pancreatitis

Tropical Pancreatitis

• Autosomal Recessive
• SPINK1 Mutation – Serine Protease Inhibitor Kazal Type 1
• Associated with Eating Cassava Root
• Presentation: Recurrent Acute Pancreatitis in Pediatrics & Chronic Pancreatitis in Adults
  • High Risk for Pancreatic CA
• Diagnosis: Genetic Testing
• Treatment: Same as Chronic Pancreatitis

Other Genetic Mutations

• CFTR Mutation – Cystic Fibrosis Transmembrane Conductance Regulator
• CTRC Mutation – Chymotrypsin C
• CLDN2 Mutation
• CPA1 Mutation