Q2. Correct Answer: B
The PRSS1 mutation has been shown to be the causative genetic factor in hereditary pancreatitis. Hereditary pancreatitis is an autosomal dominant gene mutation with 80% penetrance. Symptoms start in childhood with acute recurrent pancreatitis and progress to chronic pancreatitis, diabetes, and exocrine insufficiency. The incidence of pancreatic cancer is increased to 40% by age 70. BRCA1 mutations have been associated with familial pancreas cancer families. SPINK mutations have been associated with chronic tropical pancreatitis. Delta F508 is the most common mutation in cystic fibrosis that leads to pancreas insufficiency in childhood. The clinical scenario is classic for hereditary pancreatitis.
1. Shelton CA, Umapathy C, Stello K, Yadav D, Whitcomb DC. Hereditary pancreatitis in the United States: Survival and rates of pancreatic cancer. Am J Gastroenterol. 2018 Sep;113(9):1376-84.