SPINK1 mutation in a pediatric patient with chronic pancreatitis: A case report.

Chronic pancreatitis is a progressive inflammatory process of the pancreas that leads to fibrosis and exocrine and endocrine function loss with structural changes demonstrated by radiologic and histologic evidence. The clinical course of the disease is characterized by recurrent episodes of acute pancreatitis appearing at early ages, followed by a final stage with calcifications, pancreatic insufficiency, and diabetes mellitus in the majority of the patients. Chronic pancreatitis incidence due to any cause is from 3.5-10/100,000 inhabitants/year in Europe and the United States. Its cause cannot be defined in a significant percentage of cases (10-25%), resulting in the classification of idiopathic chronic pancreatitis. This is the classification in 40-60% of pediatric cases. Over the last few decades, in addition to the cystic fibrosis transmembrane conductance regulator (CFTR) gene, alterations have been identified in others, such as the cationic trypsinogen (PRSS1), anionic trypsinogen (PRSS2), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC) genes that play an important role in the pathophysiology of chronic pancreatitis, reducing the percentage of cases previously defined as idiopathic. We present herein the case of an 8-year-old boy that was admitted to the Hospital Pablo Tobón Uribe due to localized abdominal pain in the epigastrium, nausea, and vomiting. His nutritional status was adequate, epigastrium palpation was painful, but there were no other pathologic signs. He had a past history of an episode of acute pancreatitis at the age of 7 years and his family history included a brother with acute pancreatitis and no other relevant data. The patient’s symptoms upon admittance were suggestive of uncomplicated acute pancreatitis and he had elevated pancreatic enzymes (amylase 1,359; lipase 3,098) (table 1). A nuclear magnetic resonance study of the pancreas revealed irregular dilation of the duct of Wirsung (fig. 1). Taking his past history and the biochemical and radiologic findings into account, the diagnostic approach for chronic pancreatitis was begun, ruling out other causes such as hypercalcemia and autoimmune pancreatitis; the quantification of immunoglobulin G subclass 4 was within normal parameters. Molecular studies were performed that included 60 mutations for CFTR, which were negative, and only the presence of the N34S mutation of the SPINK1 gene in exon 3 was reported. During the one year of follow-up at the institution, the patient once again presented with symptoms of uncomplicated acute