Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
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Target Concepts:
Gene/Protein
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Query: UMLS:C0030305 (
pancreatitis
)
16,014
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A case of a patient with
pancreatitis
and familial hypocalciuric hypercalcaemia is presented and the literature linking
FHH
and
pancreatitis
is reviewed. The case for a causal link between the two conditions is not proven and seems unlikely. In view of this we strongly challenge the recommendation of total parathyroidectomy in such cases.
...
PMID:Familial hypocalciuric hypercalcaemia and pancreatitis: no causal link proven. 228 90
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.
...
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.
...
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
.
...
PMID:Clinical review of acute, recurrent, and chronic pancreatitis: Recent updates of 2013-2019 literature. 3274 9