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Idiopathic Chronic Pancreatitis (idiopathic + chronic_pancreatitis)
Selected AbstractsMutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis,HUMAN MUTATION, Issue 8 2006Niels Teich Abstract Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G>A (p.R122 H) mutation of the PRSS1 gene encoding cationic trypsinogen with hereditary pancreatitis. In the following years, further mutations of this gene were discovered in patients with hereditary or idiopathic chronic pancreatitis. In vitro the mutations increase autocatalytic conversion of trypsinogen to active trypsin and thus probably cause premature, intrapancreatic trypsinogen activation in vivo. The clinical presentation is highly variable, but most affected mutation carriers have relatively mild disease. In this review, we summarize the current knowledge on trypsinogen mutations and their role in pancreatic diseases. Hum Mutat 27(8), 721,730, 2006. © 2006 Wiley-Liss, Inc. [source] Cause and effect relationship of malnutrition with idiopathic chronic pancreatitis: Prospective case,control studyJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 9 2008Shallu Midha Abstract Background and Aim:, Patients with chronic pancreatitis are often malnourished. The role of malnutrition in the pathogenesis of chronic pancreatitis is unclear. The aim of the present article was to study prospectively the cause and effect relationship of malnutrition with idiopathic chronic pancreatitis in a case,control study. Methods:, Consecutive patients with chronic pancreatitis underwent anthropometry, nutritional and dietary assessments. For dietary assessment, food frequency questionnaire and 24-hour dietary recall methods were used. Primary outcome measure was cause and effect relationship of malnutrition with idiopathic chronic pancreatitis. Results:, Of 201 patients with chronic pancreatitis, 120 had idiopathic chronic pancreatitis (mean age 29.60 years, 74 males) who formed the study group. None of the patients consumed cassava. The nutritional status and dietary intake of the patients before the onset of chronic pancreatitis were comparable with those of controls with 20.6% of patients and 22.5% of controls being malnourished (body mass index [BMI] < 18.5). After the onset of chronic pancreatitis, 56.5% of patients lost weight and significantly more patients became malnourished compared with controls (45.8% vs 22.5%; P < 0.001). The causes of weight loss were diabetes, higher calories from proteins, and pseudocyst. Conclusion:, Malnutrition was not a cause of idiopathic chronic pancreatitis and weight loss occurred as an effect of chronic pancreatitis. Cassava was not found to be a cause of idiopathic chronic pancreatitis. [source] Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitisCLINICAL GENETICS, Issue 3 2001Jm Chen Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP). Their occurrence in the idiopathic chronic pancreatitis (ICP) and whether novel mutations could be identified in PRSS1 remain to be further evaluated. These were addressed by the mutational screening of the entire coding sequence and the intronic/exonic boundaries of the PRSS1 gene in 221 ICP subjects, using a previously established denaturing gradient gel electrophoresis technique. Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP. Additional missense mutations, including P36R, E79K, G83E, K92N and V123M, were identified once separately. By analogy with the known PRSS1 mutations, predisposition to pancreatitis by some of them, particularly the V123M autolysis cleavage site mutation, is suspected. Functional analysis is expected to clarify their possible medical consequences. [source] | ||||||||||