|
Exocrine pancreatic insufficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
None of the patients had evidence of pancreatic calcifications or exocrine pancreas insufficiency at the time of CFTR modulator initiation.
|
31611131 |
2019 |
|
Exocrine pancreatic insufficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we present the case of a 10-year-old child with pancreatic exocrine insufficiency since birth who regained pancreatic functioning after 4 years on the CFTR corrector drug, ivacaftor.
|
31066218 |
2019 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A statistical association was observed between the occurrence of hepatobiliary disease and the presence of pancreatic insufficiency and severe mutations in the CFTR gene.
|
28888897 |
2019 |
|
Exocrine pancreatic insufficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
In the pancreas, CFTR abnormality results in abnormally viscous secretions that obstruct proximal ducts leading to fibrotic injury and ultimately pancreatic insufficiency in 85% of the CF population.
|
31296159 |
2019 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The PI status was associated with clinical variables and SNPs related with inflammatory response considering CFTR mutations.
|
29215541 |
2018 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
There were interaction between the rs3788766, rs7512462, rs17235416, and rs17563161 variants, and CFTR mutations with pancreatic insufficiency (PI), onset of digestive symptoms, and presence of mucoid Pseudomonas aeruginosa.
|
29635781 |
2018 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Forty-five CF patients with homozygous CFTR I1234V mutation belonging to a large Arab kindred tribe and eight CF patients with other mutations associated with pancreatic insufficiency (PI).
|
26096753 |
2017 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
MI was predominantly prevalent in patients with pancreatic insufficiency carrying "severe" CFTR mutations.
|
26087176 |
2016 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To determine if progressive improvement in cystic fibrosis-related diabetes (CFRD) mortality has continued since 2008, and examine associations with CFTR genotypes linked to pancreatic insufficiency and to sex.
|
25479583 |
2015 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Pathological concentrations of PIVKA-II occurred more frequently in patients with pancreatic insufficiency and those who have two severe mutations in both alleles of the CFTR gene.
|
26160248 |
2015 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate genotype-phenotype correlations, the Pancreatic Insufficiency Prevalence (PIP) score was developed and validated to determine severity in a large number of CFTR mutations.
|
22658665 |
2012 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.
|
20052365 |
2010 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF), which is among the most common life-shortening recessive illnesses, is caused by mutations of the CF transmembrane conductance regulator (CFTR) and typically involves chronic infection and progressive obstruction of the respiratory tract as well as pancreatic exocrine insufficiency.
|
18493878 |
2008 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency and chronic endobronchial infection.
|
18506640 |
2008 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The CFTR gene mutation 1811+1.6 kbA>G has been reported as associated with a severe phenotype of cystic fibrosis with pancreatic insufficiency.
|
16144754 |
2005 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the groups with PI and PI after PS, 5 of 15 patients and 3 of 8 patients, respectively, carried 2 class I, II, or III CFTR mutations.
|
15772171 |
2005 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is an autosomal recessive inherited disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene and is characterised by pancreatic insufficiency and chronic bronchopulmonary infection.
|
12651880 |
2003 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene and is characterized by progressive bronchiectatic lung disease and pancreatic exocrine insufficiency.
|
12677168 |
2003 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The CFTR genotype is invariably correlated with pancreatic status-in about 85% of cases with pancreatic insufficiency and in about 15% of cases with pancreatic sufficiency.
|
12124743 |
2002 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis is an inherited multi-system disease, characterised by progressive lung disease and pancreatic insufficiency that is classically attributed to the dysfunction of a single gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR).
|
12052305 |
2001 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.
|
11589722 |
2001 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In patients with cystic fibrosis, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene typically cause pulmonary and pancreatic insufficiency while rarely causing pancreatitis.
|
9725922 |
1998 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as "severe," causing pancreatic insufficiency.
|
8863168 |
1996 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
|
Exocrine pancreatic insufficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated an age dependent distribution of CFTR genotypes, and confirmed the previously reported association between the dF508 mutation in the CFTR gene and pancreatic insufficiency.
|
1719773 |
1991 |