Predicting Pancreatitis Phenotype Based on a Shared Genotype

    loading  Checking for direct PDF access through Ovid


To the Editor:
The incidence of acute pancreatitis (AP) in children is increasing and approaching incidence reported in the adult population.1 A primary risk factor for the development of acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) in children is genetic mutations.2 Serine protease inhibitor Kazal-type 1 (SPINK1) mutations occur in up to 2% of the general population, with a minority developing pancreatitis and even in heterozygotes is believed to be a disease risk modifier for the development of ARP/CP.3 We describe 3 siblings with near identical clinical manifestations of early onset ARP, all possessing the same SPINK1 mutations, including a variant previously unreported in association with pancreatitis.

Related Topics

    loading  Loading Related Articles