Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis
نویسندگان
چکیده
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 and search for the cause of chronic calcifying pancreatitis, who was found to carry 2 SPINK1 mutations.
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 ...
متن کاملAbsence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.
BACKGROUND AND AIMS Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSS1) gene are causally associated with recurrent acute and chronic pancreatitis. We investigated whether mutations in the PRSS1 gene are associated with hereditary and non-hereditary pancreatitis. As a modifier role has been proposed for trypsin inhibitor (serine protease inhibitor, Kazal type I; SPINK...
متن کاملCo-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case
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 کاملA Study of SPINK 1 Mutation and Other Clinical Correlates in Idiopathic Chronic Pancreatitis
Aim Chronic pancreatitis is labelled as idiopathic when no identifiable factors are found. The identifications of genetic mutations associated with pancreatitis have provided opportunities for identifying patients at risk for idiopathic pancreatitis. The aim of this study was to study the demographic, clinical profile and assess the prevalence of genetic mutation (SPINK 1) in idiopathic chronic...
متن کاملThe course of genetically determined chronic pancreatitis.
CONTEXT The clinical course of chronic pancreatitis in patients with mutations of cationic trypsinogen and the trypsin inhibitor SPINK1 has not yet been characterized. SETTING Cationic trypsinogen (PRSS1) and the serine protease inhibitor, Kazal type 1 (SPINK1), were analyzed in patients with pancreatitis of unclear origin. PATIENTS Eighty subjects with trypsinogen mutations (21x N29I, 59x ...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2017