Genetic Pancreatitis Related To SPINK1 Mutations
What is SPINK1-related genetic pancreatitis?
Pancreatitis with autosomal recessive transmission favoured by mutations of the SPINK1 gene (Serine Protease Inhibitor Kazal type 1) coding for the inhibitor of cationic trypsinogen.
Prevalence is 10/100,000.
The alteration of SPINK1 is not the sole cause of pancreatitis. It is one factor that is combined with other factors, both environmental and genetic (CFTR, PRSS1).
How is it diagnosed?
The diagnosis of a SPINK1 mutation is done via genetic testing after getting the patient's written consent.