Cystic Fibrosis-Sanguinetti Flashcards
What is CF?
an autosomal recessive disease caused by a defect in CF gene which codes for the protein transmembrane conductance regulator (CFTR)
What is CFTR and why is it important?
a chloride channel
-if it is defective it results in decreased secretion of chloride and increased reabsoprtion of sodium and water across epithelial cells of respiratory tract, pancreas, GI tract, and sweat glands.
CFTR mutations have (blank) penetrance.
What is the significance of this?
poor
genotype doesnt predict pattern or severity of disease which means an environmental component of organ dysfunction or modifying gene is present.
What is a Class I CF defect?
What type of mutation is this?
What is the potential therapy?
No synthesis of CFTR
Nonsense; Frameshift
-Gentamycin, Gene transfer
What is a Class II CF defect?
What type of mutation is this?
What is the potential therapy?
Block in CFTR processing
- Missense; AA deletion (delta F508)
- Butyrates, Gene transfer
What is a Class III CF defect?
What type of mutation is this?
What is the potential therapy?
Bock in regulation of CFTR
- missense; AA change (G55ID)
- Genistein, gene transfer
What is a Class IV CF defect?
What type of mutation is this?
What is the potential therapy?
- Altered conductance
- Missense: AA change (RII7H)
- Milirinone, gene transfer
What is a Class V CF defect?
What type of mutation is this?
What is the potential therapy?
- Reduced synthesis of CFTR
- missense: AA change (A445E) and alternative splicing
- Gene transfer
What are the organs affected by CF?
What happens to each of them?
- sinuses-> sinusitis (infection)
- lungs -> mucus buildup, bacterial infections, widened airways
- skin-> salty sweat
- liver-> blocked biliary duct
- pancreas-> blocked pancreatic duct
- intestines-> cannot fully absorb nutrients
- reproductive organs-> male and female complications
What are the non-med tx for CF?
Diet: Increased Calcium and increase proein
Pulmonary therapy: (chest physiotherapy,postural drainage)
-Breathing exercises
-Aerosal therapy
What are the meds used to treat pnts with CF?
Antibiotics Supplemental vitamines Aerosol (bronchodilators) Mucolytics Pancreatic (enzymes)
What are the symptoms of CF?
fatigue chronic cough recurrent URI's Thick, Sticky Mucus -Chronic hypoxia (clubbing, barrel chest) -decreased absorption of vits and enzymes -abdominal distention -decreased digestive enzymes -rectal prolapse -fatty, stinky stools (steatorrhea) -meconium lleus in newborn
(blank) loves to attack the lungs of CF patients. Why is this pathogen so dangerous?
pseudomonas
-lays down biofilm and is super adaptable
A arge percentage of CF patients develop (blank)
type I diabetes
Why cant CF patients eat fat?
Cuz they dont have functional lipase
