|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The frequency of PD was higher in patients with CFTR gene-associated pancreatitis as compared with those with idiopathic and alcoholic pancreatitis (P<0.0001) and with those with SPINK1 and PRSS1 gene-associated pancreatitis (P<0.02).
|
22158025 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.
|
17981921 |
2008 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alterations to the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) also cause pancreatitis.
|
25447846 |
2015 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
A model of interactions between environmental triggers of pancreatic inflammation and disease susceptibility or modifying genes (including PRSS1, SPINK1 and CFTR) provides a framework within which to understand disease pathogenesis.
|
17090903 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast, a combination of both hypercalcemia and genetic variants in SPINK1 or CFTR increases the risk to develop pancreatitis in patients with pHPT.
|
18076731 |
2008 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetically determined pancreatitis is associated with mutations in the PRSS1,SPINK1 and CFTR genes.
|
23751316 |
2013 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15749233 |
2005 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Patients presenting with recurrent, "idiopathic" pancreatitis require CFTR function testing.
|
18360295 |
2008 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, CFTR mutations not causal for classical cystic fibrosis segregate with unexplained pancreatitis and one of these lies in NBD1 near its ATP-clamp (S573C; close to the Walker B aspartate D572).
|
20332619 |
2010 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field.
|
15528020 |
2004 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No specific CFTR genotype was found predictive of pancreatitis.
|
27086061 |
2017 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The length of recurrences of pancreatitis before diagnosis of chronic pancreatitis was shorter in chronic pancreatitis patients with one or more CFTR gene mutations than in the other idiopathic chronic pancreatitis patients (7.4+/-5.8 vs. 2.1+/-2 years).
|
12779072 |
2003 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings reveal that correcting ductal function is sufficient to rescue acinar cell function and suggests that CFTR correctors are strong candidates for the treatment of Sjögren's syndrome and pancreatitis.
|
28634110 |
2017 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recurrent pancreatitis is considered a rare manifestation of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction; this case series highlights that pancreatitis can be a presenting symptoms of cystic fibrosis (CF) or a CFTR-related disorder (CFTR-RD).
|
31268981 |
2019 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We analyzed 381 patients with a primary diagnosis of chronic or recurrent pancreatitis using the Ambry Test: Pancreatitis to obtain comprehensive genetic information for the CFTR, SPINK1, and PRSS1 genes.
|
17003641 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
|
12940920 |
2003 |
|
Pancreatitis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In a cohort of patients with pHPT and pancreatitis mutations in the serine protease inhibitor Kazal type I (SPINK1) and cystic fibrosis transmembrane conductance regulator (CFTR) genes, that increase the risk for pancreatitis have already been detected.
|
20625975 |
2011 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that any augmentation of CFTR function can reduce the risk of pancreatitis.
|
31611131 |
2019 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients.
|
16193325 |
2005 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Genetic mutations in the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator have been described to play a role in the development of pancreatitis as well.
|
16764792 |
2006 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation analysis of the CFTR gene therefore appears to be of limited diagnostic and prognostic value in the management of chronic pancreatitis.
|
17943404 |
2007 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This association, however, does not definitely confer a pathophysiological role for PD in pancreatitis but may denote that PD co-mingles with CFTR mutations without influencing pancreatitis or CFTR mutations influence pancreatic duct embryogenesis.
|
22306946 |
2012 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance regulator gene (CFTR) and serine protease inhibitor Kazal type 1 gene (SPINK1) mutations with patients who retained the diagnosis of true idiopathic pancreatitis (tIP) after genetic testing for HP, SPINK1, and CFTR mutations.
|
20502448 |
2010 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
|
19106752 |
2009 |
|
Pancreatitis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were (1) to describe the natural history of pancreatitis associated with the CFTR mutation, (2) to look for genotype-phenotype correlations, and (3) to examine the frequency of CFTR mutations in a population of patients with IP.
|
20460946 |
2010 |