Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149521 (chronic pancreatitis)
 7,199 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For many years, the classification of chronic pancreatitis has been oversimplified according to whether the cause is alcoholic (60-70% of cases according to published series) or non-alcoholic (20-40% of the remaining cases). Recognition of smoking as an important risk factor and increasing identification of factors of genetic susceptibility have placed these percentages in doubt and have led to a reconceptualization of the disease as a multifactorial process. Mutations in the PRSS1, SPINK1 and CFTR genes have been confirmed as major risk factors, while mutations in the CTRC and CASR genes are considered lesser risk factors for the development of chronic pancreatitis. These genetic variants are expressed in a much higher percentage of patients with chronic pancreatitis than could be expected by chance. The trans-heterozygous combination multiplies the risk of chronic pancreatitis and demonstrates the degree of complexity of the etiopathogenic mechanisms of the disease. Ductal obstruction and autoimmunity are other important etiologic factors of chronic pancreatitis that need a specific review. The present article reviews the latest studies evaluating the role of alcohol and smoking in chronic pancreatitis and the most significant genetic factors.
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PMID:[Chronic pancreatitis: beyond alcohol]. 2260 93

Genetic risk for acute pancreatitis (AP), recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are increasingly recognized. The exocrine pancreas is composed of both acinar cells and duct cells, with genetic factors associated with AP, RAP and CP linked to one cell type or the other. Increased susceptibility to pancreatitis occurs when the normal physiological mechanisms that allow the pancreas to respond to common stresses or injury are altered. Currently, most our knowledge about genetics focuses on three genes that play critical roles in pancreatic function (PRSS1, CFTR, SPINK1) such that isolated defects lead to disease. However, recent data suggest that more complex combination of genetic and environmental factors are also as important, or more important than Mendelian genetic risk. Understanding of complex interactions requires modeling of these factors so that the response to stresses or injury can be simulated and critical interactions understood. A simple duct cell model is given to illustration the relationship between CFTR, CASR, aquaporins, claudins, and SPINK1, and how they interact. The role of CFTR variants in pancreatic diseases is then discussed.
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PMID:Genetics of pancreatitis with a focus on the pancreatic ducts. 2320 7

Pancreatitis is an inflammation of the pancreas that can progress from an acute presentation to an acute recurring presentation and eventually to chronic pancreatitis, which is characterized by irreversible morphological changes and scarring of the pancreas. The entity known as hereditary pancreatitis has been recognized in the literature for years and certainly the discovery of the PRSS1 gene in 1996 marked the beginning of a new era of genetic discoveries associated with the disease. Since then, multiple genes have been described as the causing agents of pancreatitis or disease modifiers, some of the most important ones being the PRSS1, SPINK1, CFTR, CASR, CTRC, CLDN2, and CPA1. The patient selection process for genetic testing should be guided by the current experts' recommendations and should meet specific corresponding criteria. Once the diagnosis has been made, treatment should be tailored to each patient's particular needs. Certainly, the advent of the total pancreatectomy with auto islet cell transplantation, which has the main goal to improve the pain caused by the chronic pancreatitis and simultaneously reduce the severity of the pancreatectomy induced diabetes, is an attractive alternative in the treatment and management of patient with a diagnosis of hereditary pancreatitis. However, strict criteria and an interdisciplinary management are essential since this surgery is irreversible and carries lifetime health consequences that all patients must be aware of and the medical team must be able to early recognize these and treat accordingly. However, there are many potential areas in this field for more, better and forefront research to be developed aiming for a better understanding of the disease process and for the development of a cure.
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PMID:[Pancreatitis, genes and islet cells auto transplant; updates and new horizons]. 2873 96

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