MTC Case Study K Cystic Fibrosis
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what population is cystic fibrosis found in
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whites
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describe the general pathophisiology of cystic fibrosis
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genetic defect of CFTR protein
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what Chromosome do you find CFTR on
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7
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how is CFTR inherited
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autosomal recessive
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how do carriers present
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no manifestation
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what does CFTR stand for
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CF Transmembrane Conductance Regulator
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what type of protein is CFTR
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ATP binding cassette transporter
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what cells do you find CFTR on
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epithelial cells
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what is CFTR main function
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transport Cl- out (regulates Na and H2O as well)
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what does CFTR down regulate
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amiloride-sensitive epithelial Na channel
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what does CFTR upregulate
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an alternative outward rectifying Cl- channel
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What happens to Cl- secretion and Na absorption in CF
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decreased increased
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What are the 4 physiologic effects of CF
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1. increased Na/H2O absorption 2. thin airway surface liquid layer 3. thick, tenacious mucus 4. cilia dysfunction
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whawt are the 4 main organ systems affected by CF
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1. Pulmonary- airway inflation 2. Gastrointestinal- pancrease/liver 3. Reproductive 4. Endocrine
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what causes morbidity in Cf
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slow decline in lung function- FEV1
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what are the best indicators of survival
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FEV1 and Lung function
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what are the 5 pulmonary manifestations
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1. chronic cough with sputum 2. radiographic abnormalities 3. chronic airway obstruction 4. chronic pansinusitus/ nasal polyps 5. chronic, persistent, recurrent airway infections
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what is the issue with pancreas
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unable to secrete pancreatic enzymes fibrosis of acinar duct
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what can result from pancreatic insufficiency
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fat malabsorption ADEK deficit
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what can arise with constipation
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meconium ileus- early in life distal intestinal obstructive syndrome- late
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what is the issue with sweat in CF
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too much Na is lost in sweat (can result in dehydration, hyponatremia, seizures)
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what can happen to the reproductive systems
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males will be infertile females are sub infertile
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what are treatments for CF
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airqay clearance, antiinflamatory, antibiotics nutrition, enzyme replacement (pancreas)
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what is a major bronchodilator
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beta 2 agonist- albuterol
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what is contained in mucolytics
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DNAse
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how is the airway cleared
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percussion/drain oscillation vest hypertonic saline- replaces NaCl to improve mucous hydration to increase all ciliary related functions
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what cells are involved in \"inflammaroy cells releasing DNA\"
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macrophages
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t/f nutritional supplements prevent constipation
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true
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what kind nutritional diet do you want to supplement with
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high calorie, high fat, high Na
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What is Class 1 CF
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nonsense mutation so there is a problem translating the gene to functional protein
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what do aminoglycoside antibiotics do
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target bacterial small ribosome unit and binds to the decoding site to chang ethe conformation allowing for insertion of appropriate tRNA at subunit to allow translation
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what are side effects of aminoglycosides
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renal damage hearing loss
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what is a PTC
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premature stop codon
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what does PTC 124 do
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restore full length protein to override nonsense mutation
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describe class 3 CF
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missense mutation 4-5% CFTR reaches cell surface but their is poor Cl- transport
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what drugs can be used for Class 3 mutation
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Flavonoids VX-770 potentiators
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describe VX-770 Potentiator
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improvement of CFTR funciton small improvement in lung function
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describe class 2mutations
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most common protein degraded in ER
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what is used to treat class 2
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corrector VX-809
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what do correctors do
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CFTR takes it to cell surface
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what do potentiators do
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makes CFTR more likely to be open
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what is kalydeco
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a new approved drug for G551D (class 3) and 8 other mutations
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what is the deal with CFTR and ATP
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CFTR is a channel not a transporter, but it still requires ATP
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what enzyme + ATP is required for CFTR release
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PKA
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what is VX-770
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potentiator
