臨床小児科研究ジャーナル

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

Stefany HG, Erika EB, Alexander W, Viraine W, Melissa LL and Michael JW

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.