Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity.
Maha Khalil AbassAisha Al ShamsiIftikhar JanMohammed Suhail Yasin MasalawalaAsma DeebPublished in: Endocrinology, diabetes & metabolism case reports (2022)
Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed. Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system. Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors. SPINK1 mutations can predispose to an early-onset severe recurrent pancreatitis and acute pancreatitis.