Pediatric Patient With Acute Recurrent Pancreatitis: Importance of Genetic Testing

Pancreatitis occurs when there is inflammation in the pancreas because of autodigestion by enzymes secreted from the exocrine portion of this organ. Clinical diagnosis of the disease can be differentiated into the following types based on duration: acute (few days to six months), acute recurrent (two or more episodes of acute pancreatitis with resolution between episodes), and chronic (more than six months). An earlier onset of pancreatitis tends to correlate with phenotypic presentations of mutations on pancreatic associated genes. Those that have been previously associated with pancreatitis include the SPINK1, CTRC, PRSS1 and CFTR genes, which will be further discussed in this case report. We introduce the case of a 6-year-old Puerto Rican female who has suffered from seven episodes of acute pancreatitis in the past year. A diagnosis of acute recurrent pancreatitis with unknown etiology was initially made. As part of the diagnostic criteria for patients who present with unexplained episodes of pancreatitis, tests were performed in order to verify possible genetic etiology. Testing revealed that the patient was heterozygous for two variants that predispose to pancreatitis found on genes CTRC (c.640-12G>A) and on SPINK1 (c.101A>G, p.(Asn34Ser)). Both of these genes are essential in the control of trypsin, a proteolytic enzyme that regulates the exocrine enzymatic cascade in the pancreas.