GASTROENTEROLOGY ARTICLE OF THE WEEK
October 7, 2010
Ooi CYT, Gonska T, Durie PR, Feedman SD. Genetic testing in pancreatitis. Gastroenterology 2010;138:2202-2206.
1. Trypsinogen mutations
a. are autosomal recessive
b. All mutations in the trypsinogen genes are associated with increased risks of pancreatitis.
c. PRSS1 mutation is one typically associated with chronic pancreatitis
d. Patients with PRSS1 mutation have a 35-fold increased risk of pancreatic cancer
e. Identification of PRSS1 carriers allows for preventive strategies that effectively reduce the risk of pancreatic cancer.
2. Mutations in the CFTR genes may contribute to pancreatitis by
a. early activation of trypsinogen in the acinus
b. affecting secretion of pancreatic enzymes by blocking acinar transport mechanisms
c. affecting water and electrolyte secretion by pancreatic ductular epithelial cells
d. decreasing bicarbonate secretion by ductular cells
True or False
3. SPINK-1 mutations have a much lower penetrance than PRSS1 mutations.
4. CFRT mutations are unlikely to play a role in chronic pancreatitis if other organ systems such as the lungs, are not involved
5. Most CFTR mutations do not cause cystic fibrosis
6. CFTR genetic panel and SPINK-1 mutation detection should be a standard part of the evaluation of patients with chronic idiopathic pancreatitis
7. Genetic testing is superior to sweat chloride test for the diagnosis of CF
8. Most patients with chronic pancreatitis from CFTR mutations, carry mutations in at least 2 alleles.
9. SPINK-1 mutations are more useful in assessing predisposition to chronic pancreatitis rather than diagnosing a cause for chronic pancreatitis