Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis
نویسندگان
چکیده
منابع مشابه
Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis
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 کاملGenetic mutations in SPINK1, CFTR, CTRC in acute pancreatitis
Background. The explanation of the ultimate causes of acute and chronic pancreatitis is
متن کاملGenetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
BACKGROUND Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis an...
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Familial aggregation of CP suggests genetic factors for disease without definitive mode of inheritance. The hypothesized primary putative gene for CP includes SPINK1, CTSB, CTRC, PRSS1 and CFTR. These genes interact with each other and exhibit a variable phenotype in patients. The present report describes a male adult aged 42 years with a complaint of severe recurrent pain in the abdomen and we...
متن کاملMutations of the SPINK1 gene and their relation to chronic pancreatitis.
The easiest pathogenetic explanation would be an impaired inhibitory activity towards trypsin, but after expression in a bacterial system wild type and N34SSPINK1 were equally effective [6] . In consequence, other and less simple mechanisms will have to be taken into consideration: fi rstly, but less likely, all SPINK1 variants could be in linkage disequilibrium with an adjacent gene that is th...
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ژورنال
عنوان ژورنال: Case Reports in Gastroenterology
سال: 2017
ISSN: 1662-0631
DOI: 10.1159/000456654