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- Janaki Patel, Arina Madan, Amanda Gammon, Michael Sossenheimer, and Niloy Jewel Samadder.
- Division of Gastroenterology, University of Utah, Salt Lake City, Utah, USA.
- Pan Afr Med J. 2017 Jan 1; 28: 110.
AbstractHereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation.
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