Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
نویسندگان
چکیده
منابع مشابه
Genetic 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...
متن کاملGenetic mutations in SPINK1, CFTR, CTRC in acute pancreatitis
Background. The explanation of the ultimate causes of acute and chronic pancreatitis is
متن کاملCFTR, 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 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 کاملCFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
CONTEXT Mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in cationic trypsinogen (PRSS1) and in serine protease inhibitor Kazal type 1 (SPINK1) genes have been associated with chronic pancreatitis (alcohol related, idiopathic and hereditary). However, the inheritance pattern is still not clear. PATIENTS Eighty-two unrelated Brazilian patients with chronic pancreatitis ...
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ژورنال
عنوان ژورنال: BMC Gastroenterology
سال: 2015
ISSN: 1471-230X
DOI: 10.1186/s12876-015-0302-6