A 16-year-old boy has recurrent attacks of acute pancreatitis since age 9, and his father had similar episodes. Genetic testing reveals a mutation in the cationic trypsinogen gene. Which statement about this condition is correct?

• A It follows autosomal recessive inheritance with low penetrance
• B The mutation prevents trypsinogen activation entirely
• C It carries a markedly increased lifetime risk of pancreatic ductal adenocarcinoma ✓
• D It results from loss of function of the SPINK1 inhibitor gene

Explanation

Hereditary pancreatitis is caused by gain-of-function mutations in PRSS1, classically R122H, that render trypsin resistant to autodegradation, permitting inappropriate intrapancreatic activation. It is autosomal dominant with high penetrance, and affected patients carry a substantially elevated lifetime risk of pancreatic adenocarcinoma. SPINK1 mutations act as modifiers rather than being the defining lesion here.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.