Serine Protease Inhibitor Kazal Type I (SPINK1) Mutation: A Risk Factor for Early-onset Chronic Pancreatitis?
نویسندگان
چکیده
منابع مشابه
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
BACKGROUND Although chronic pancreatitis is associated with risk factors such as alcoholism, hyperparathyroidism, and hypertriglyceridaemia, little is known of the actual aetiology of the disease. It is thought that inappropriate activation of trypsinogen causes pancreatitis, and indeed in cases of hereditary pancreatitis mutations of cationic trypsinogen (PRSS1) have been described. As serine ...
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Endoscopic interventional is a commonly used treatment method for idiopathic chronic pancreatitis. Serine protease inhibitor Kazal type 1 (SPINK1) 194+2T>C mutation is most frequently observed in Chinese pancreatitis patients and influences the clinical course of idiopathic chronic pancreatitis patients. We conducted this study to determine the impacts of this mutation on the outcome of endosco...
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The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. SPINK1 mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain ...
متن کاملRare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation
Hereditary 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 complicati...
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ژورنال
عنوان ژورنال: Journal of Pediatric Gastroenterology & Nutrition
سال: 2018
ISSN: 0277-2116,1536-4801
DOI: 10.1097/mpg.0000000000002024