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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cystic fibrosis
Comorbidity C0030305|pancreatitis
Sentences 10
PubMedID- 22410943 Genetic alterations in cftr can be found in patients suffering from chronic pancreatitis and in patients with cystic fibrosis.
PubMedID- 20923678 Type of cftr mutation determines risk of pancreatitis in patients with cystic fibrosis.
PubMedID- 24616641 Mutation in the cystic fibrosis gene is associated with idiopathic chronic pancreatitis when present in heterozygous state in association with other cftr polymorphism [7].
PubMedID- 20332619 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).
PubMedID- 24002981 Using patch-clamp techniques, they also found that the cftr genotype caused a selective defect in biocarbonate conductance.32 another study from australia showed that symptomatic pancreatitis occurs in 20% of pancreatic sufficient cystic fibrosis patients.
PubMedID- 23469112 Provided that a fast protease-substrate is used these results open the door to better diagnoses of a number of important pathologies (cystic fibrosis, inflammation, pancreatitis) by omri or electron paramagnetic resonance imaging in vivo.
PubMedID- 24178571 The nonneoplastic diseases of the human pancreas generally comprise the inflammatory and degenerative conditions that include acute and chronic pancreatitis, with cystic fibrosis being arguably one of the most important diseases that induce the condition.
PubMedID- 22094894 Genetic pancreatitis (gp) is associated with mutations of cystic fibrosis transmembrane conductor regulator gene (cftr), cationic trypsinogen (prss1) gene, and serine protease inhibitor kazal type 1 (spink1).
PubMedID- 26282838 The unique aspects of the case are highlighted, including the particular risk of drug-associated pancreatitis in those with cystic fibrosis.
PubMedID- 20977904 Combined bicarbonate conductance-impairing variants in cftr and spink1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

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