Cystic Fibrosis Flashcards
Cystic fibrosis is an _______ disorder
Autosomal recessive
There is defect in the _____ gene, on chromosome_______, commonly a ________
CFTR
long arm of chromosome 7
Deletion of Phe508
It is the most lethal genetic disease in which racial group?
Caucasian
The most common mutation results in _______ which is retained in __________ and not _________.
Misfolded protein
Retained in RER
And not transported to cell membrane
What does the cftr gene encode?
Atp gated cl channel
The chloride channel ————— in ___________ and _________ in ________
Secrets
Lungs and GI
Reabsorbs
Sweat glands
What happens if the protein is not working properly?
Lungs and GI
-decreased cl and h20 secretion
-increased intracellular cl
-increased compensatory na reabsorption via epithelial na channels
-h20 reabsorption
Anormally thick mucus secreted into lungs and gi tract
Increased na reabsorption causes _________ transepithelial difference
Negative
What is the diagnosis of cystic fibrosis?
Cl conc in pilocarpine induced sweat test
________ leads to ________ ECF volume, stimulates the renin angiotensin system, aldosterone allows ________ of sodium, and concomitant __________. This is contraction _______ and __________
Dehydration, decreased, reabsorption of sodium, K/H wasting, alkalosis, hypokalemia
ECF effects are analogous to ____________
Patient taking a loop diuretic
In newborns, what is the screening test for cystic fibrosis?
Immunoreactive trypsinogen increased
In childhood, there is ______ of pancreas, which leads to __________. This leads to decreased amount of _________ absorption
Duct obstruction, deceased amount of enzymes releasing, decreased fat and protein absorption
In childhood, due to pancreatic insufficiency, there is _________ defiencies, and malabsorption with _________, biliary _________, ________ disease
Far soluble vitamin (A, D, E, K), steatorrhea, cirrhosis , and liver
In newborns, there is ___________
Meconium ileus
Due to loss of ___________, there were recurrent infections of _____________ and _________ which lead to ___________ and _____________
S aureus [early infancy], P aeruginosa [adolescence], chronic bronchitis and bronchiectasis (due to inflammation, the vessel walls dilate)
On X ray, what are the cystic fibrosis findings?
Reticulonodular pattern on CXR and opacification of sinuses
What happens to men in cystic fibrosis?
Absence of vas deferens, spermatogensis may be un affected
What happens to women in cystic fibrosis?
Sub fertility (ameonrrhea, abnormally thick cervical mucus)
What are the other findings in cystic fibrosis?
Nasal polyps, clubbing of nails
What is the treatment of cystic fibrosis in terms of therapy?
Chest physiotherapy
Which bronchodilator is used in cystic fibrosis?
Albuterol, aerosolized dornase DNase
What drug facilitates mucus clearance?
Hypertonic saline
What drug is used as anti inflammatory agent?
Azithromycin
