Acute Recurrent Pancreatitis in a Child Heterozygous for the N34S SPINK1 Gene Mutation

Abstract

Acute pancreatitis in children is associated with abdominal trauma, drug and toxin ingestion, multi-system diseases, viral illness, and structural abnormalities [1]. Pancreatic enzyme levels decline over 3–4 days and often no specific cause is found [1,2]. Mutations in the secretory trypsin inhibitor (SPINK1) gene are associated with both hereditary and chronic pancreatitis (CP). However, its association with acute pancreatitis (AP) [3,4] and acute recurrent pancreatitis (ARP) [5,6] in the literature remains rare, especially in children. We present the case of a child with ARP found to be heterozygous for the N34S mutation of the SPINK1 gene.