A case report of childhood acute recurrent pancreatitis associated with spink1 gene mutation
Main Article Content
Abstract
Acute recurrent pancreatitis and chronic pancreatitis in children are poorly understood. Alcohol and smoking have long been recognized as major risk factors for acute recurrent pancreatitis and chronic pancreatitis in adults, while in children genetic mutations and anatomical abnormalities of the pancreatic ducts play an important role. The Serine Protease Inhibitor Kazal Type 1 (SPINK1) gene has been known to be strongly associated with chronic pancreatitis in children. This gene can be mutated, resulting in decreased or inactivated serine protease inhibitor Kazal type 1, which activates trypsinogen leading to autodigestion of pancreatic tissue and pancreatitis. Several genetic polymorphisms of this gene expressed multiple episodes of recurrent acute pancreatitis or chronic pancreatitis. We presented a 7-year-old patient admitted to the hospital with abdominal pain, a history of 9 episodes of acute pancreatitis since 4 years old, and diagnosed with 10th episode of acute recurrent pancreatitis. SPINK1 mutation was detected by gene sequencing, which demonstrated the role of genes in the pathogenesis of acute recurrent pancreatitis. This is a new direction in the diagnostic approach to the causes of pancreatitis in children.
Article Details
Keywords
children, acute recurrent pancreatitis, chronic pancreatitis, mutation, SPINK1
References
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