-Individuls with only 1 CFTR mutation have 50% loss of function and are healthy CF carriers, no phenotypic abnormality.
-Lung Disease-infection which develops into fibrosis after recurrent infections
-Abnormal sweat testing-diagnostic test for CF, sweat is more salty
-Infertility in males-due to obstruction of vas deferens
-Pancreatic Insufficiency-damaged pancreatic tissue
-Meconium ileus (only in newborns)/bowel obstruction-constipation, blockage of ileum
-Cirrhosis/portal hypertension-high vessel pressure
for most of morbidity and mortality in CF.
-Inadequate function causes obstruction of airways, of pancreatic and bile ducts, and bowel due to inadequate secretion of fluid and anions.
-expressed in the apical membrane of ductal epithelial cells
-Is a cAMP-regulated Cl- channel and in other tissues it regulates other ion transporters such as Na+ , anion exchangers
-Hormones/toxins increase cAMP which causes a kinase to phosphotylate
-CF affects an integral membrane protein found in many tissues where the protein plays different roles. This makes it more complex and harder to study than sickle cell which affects one cell type where the protein has one main role.
-In both sickle Cell and CF, the disfunction of a single mutant protein leads to all clinical features of the disease
"The semester I found StudyBlue, I went from a 2.8 to a 3.8, and graduated with honors!"Jennifer Colorado School of Mines