Hereditary Pancreatitis Testing

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,

Research of families with hereditary pancreatitis led to the

identification of several mutations in the " cationic trypsinogen gene

on chromosome 7 " . These mutations do not allow the trypsinogen gene to

perform the way it is supposed to. Mutations are also found in the

" pancreatic secretory Serine Protease Inhibitor Kazal type 1 (SPINK1)

gene " in some of the people with hereditary chronic pancreatitis.

So, to be worked up for hereditary pancreatitis involves an evaluation

of these two genes, trypsinogen and the SPINK1.

Karyn , RN

Executive Director, PAI