-genetic disorder -abnormality: chloride transport -affects cells: mucus, sweat, and digestive juices -thick and sticky & causes damage to lungs and digestive system

-respiratory: wheezing, lung infections, cough w thick mucus

-intestinal blaocage - poor weight gain/growth -greasy stools - chronic constipation

-75%of cases diagnosed by 2 - sweat test: medicine into arms; if sweat low chloriden= diagnosis

- Cl- channel -chloride from inside to outside -either nonfunctioning or underfunctioning

-thin liquid layer beitween epithelial cell surface and environmental air/gas

top layer traps foreign substances for removal

watery lower. layer in which cilia can beat to move mucus

most severe -nonsense or frameshift mutation -short protein that doesn’t do anything - no protein made

- reduces quantity of functional cftr -folding and maturation defects: premature CFTR degradation -F508del : most common. folding mutation

channel doesn’t open and close properly makes protein little to no function: gets to cell membrane but can’t get out of cell

-conductance effect -can open and close, chloride is unable to freely pass through channel -reduces amount of chloride transported; not as open

- normal cftr is produced -mutation is in transcriptional regulation’ -reduces amount of cftr produced: degrades faster than it can be made - protein on surface is functional: degrades quickly

mutation increases the rate of cftr protein turnover -less stable; less functional protein @ the cell surface; no mutation (NORMAL CFTR) mutation found in transcriptional regulation - not as correct CFTR RNA - reduces the amount of CFTR

airway, skin, lungs, gallbladder, pancreas, intestine

mucus blocks ducts (digestive): pancreatic & bile enzymes build up in pancrease pancreatic inflammation/insufficiency

scarring of pancreas causes damage to beta cells; decreased production of insulin 20%of people CF have CFRD: type IB(non-immune)

intestinal blockage alteration in microbiome caused by inflammation(decreases bacteria diversity) treatments change to microbiome changes

mucus blocks airway infections —- chronic inflammation lung damage smooth muscle thickening -takes up space & blocks airways -constant infection & chronic inflammation(lung damage over time!)

- no cure goals - preventing & controlling lung infection -removing/lossening musus from lungs -treating/preventing intestinal blockage -providing adequate nutrition