Genetic Pancreatitis Related To CTRC Mutations
What is CTRC-related genetic pancreatitis?
Pancreatitis with autosomal recessive transmission favoured by mutations of the CTRC gene (Chymotrypsin C). The alteration of CTRC is not the sole cause of pancreatitis. It is a facilitating factor in repeated pancreatitis in the heterozygote state due to loss of its protective function (chymotrypsin C in its normal state enables intra-acinar breakdown of trypsin). Prevalence is one to nine per 100,000.
How is it diagnosed?
The diagnosis of a CTRC mutation is done via genetic testing after getting the patient's written consent.