A 12-year-old boy has recurrent attacks of acute pancreatitis since age 5 years; his father had similar episodes requiring hospitalization. Genetic testing is most likely to reveal a mutation in which gene?

• A PRSS1 ✓
• B CFTR
• C SPINK1
• D CA19-9 encoding gene

Explanation

Hereditary pancreatitis is an autosomal dominant disorder caused by gain-of-function mutations in PRSS1, which encodes cationic trypsinogen. The mutant enzyme resists autodegradation and premature trypsin activation within acinar cells drives recurrent pancreatitis from childhood, with a markedly elevated lifetime risk of pancreatic cancer. SPINK1 encodes the trypsin inhibitor and acts as a disease modifier, CFTR mutations cause pancreatitis in cystic fibrosis, and CA19-9 is a serum glycoprotein marker, not a genetic locus.

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.