Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0001339 (acute pancreatitis)
 10,593 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The paper presents the data available in the literature on mutations in known genes in pancreatitis, such as cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI/SPINK1), cystic fibrosis (CFTR), and apolipoprotein E (APOE) genes, as well as the new candidate gene--chymotrypsinogen (CTRC). It also gives the results of the authors studies estimating the spread of the mutations in the PRSS1 (2.5%), PSTI/SPINK1 (3.3%), and CFTR (0.8%) genes, as well as APOE polymorphism in patients with pancreatitis. It is shown that the E4 allele of the APOE gene was more frequently identified in patients with acute pancreatitis than in those with chronic pancreatitis (0.143 +/- 0.05 and 0.026 +/- 0.02, respectively; p < 0.05). An overview is given of 7 major classes of candidate genes implicated in the pathogenesis of cholesterol cholelithiasis (CL): hepatic enzymes regulating blood lipid composition; receptors of lipoproteins, hepatic and intestinal membrane and intracellular transport proteins; factors regulating the transcription of lipids and bile salts, cholecystokinin and its receptors, and mucin. In the authors' epidemiological study, the spread of APOE alleles and genotypes did not differ in women with and without CL; low molecular-weight apolipoprotein(a) isoforms (B, S2) were significantly found in patients with CL than in those without CL; the spread of the CG genotype in the TRPM8 gene was significantly lower in women with cholesterol CL than that in the Novosibirsk population. These polymorphisms have been proved to be associated with bile cholesterol concentrations in women with cholesterol CL. The opposite effect of the APOE4 allele on gallbladder stone formation processes is demonstrated, by using the APOE polymorphism as an example, which shows it necessary to examine each specific population to elicit a possible association between the polymorphism of different genes and gastrointestinal tract diseases.
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PMID:[Genetic aspects of digestive diseases. Part 1]. 2038 81

The increasing prevalence of pancreatic disorders worldwide has provided challenges in its clinical care and management. This review was aimed to evaluate recent literature on diagnosis, treatment, and management of acute pancreatitis (AP), recurrent acute pancreatitis (RAP), as well as chronic pancreatitis (CP) documented during the past 5-6 years. An extensive literature review was carried out based on studies within the last 6 years (2013-2019). Articles were selected based on updates and therapeutic management. Critical appraisal of literature was performed using the Mixed Methods Appraisal Tool (MMAT), and a PRISMA flowchart was used to avoid bias. The study identified recent updates on the prophylactic treatment in preventing RAP. The risk factors and the therapeutic management options were evaluated and discussed. The findings show that although many lifesaving new protocols are available for implementation in clinical practice, current literature lacks detailed and comprehensive guidelines that cover special populations and comorbidities. The literature evaluated showed that eight genes were involved in pancreatitis, CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SBDS, and SPINK1, but the most common gene implicated was found to be CFTR, at 11%. Therefore, it is recommended that a comprehensive guideline should be formulated to facilitate the diagnosis, management, treatment, and prophylactic measures of pancreatic disease. This could in turn reduce disease complications and hospitalization time, and improve clinical practice for management of pancreatitis.
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PMID:Clinical review of acute, recurrent, and chronic pancreatitis: Recent updates of 2013-2019 literature. 3274 9