Functional significance of SPINK1 promoter variants in chronic pancreatitis
نویسندگان
چکیده
منابع مشابه
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
OBJECTIVE In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes. DESIGN 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) b...
متن کاملTwo 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 کاملPRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
BACKGROUND This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancr...
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 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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Physiology-Gastrointestinal and Liver Physiology
سال: 2015
ISSN: 0193-1857,1522-1547
DOI: 10.1152/ajpgi.00022.2015