Hereditary pancreatitis: An updated review in pediatrics

Table 1 Prominent pathogenic pancreatitis related gene variants

Pathogenic gene (Variant)	Inheritance pattern	Mechanism of action
PRSS1 (R122H)	Autosomal dominant	Impaired autolysis of trypsin
PRSS1 (N29I)	Autosomal dominant	Increased autoactivation of trypsin
PRSS1 (A16V)	Autosomal dominant	Possible increase in trypsin activation
CFTR (R75Q)	Autosomal recessive	Impaired zymogen secretion
Disease modifiers
SPINK1 (N34S)	Autosomal recessive	Decreased trypsin inhibition
CTRC (A73T, V235I, R253W, K247_R254del)	Autosomal dominant or multigeneic	Impaired lysis of trypsin

Table 2 Criteria Necessary for Genetic Testing of Pancreatitis related Gene Variants

Criteria necessary
Documented pancreatitis in a child without a definite cause
Acute recurrent pancreatitis without an identifiable etiology
Idiopathic chronic pancreatitis in patients younger than 25 years old
Family history of idiopathic chronic pancreatitis or acute recurrent pancreatitis
Relatives with known pancreatitis related gene mutations
Patients eligible for participation in approved study protocols