Cystic Fibrosis

Question 1

Cystic fibrosis is an _______ disorder

Answer 1

Autosomal recessive

Question 2

There is defect in the _____ gene, on chromosome_______, commonly a ________

Answer 2

CFTR
long arm of chromosome 7
Deletion of Phe508

Question 3

It is the most lethal genetic disease in which racial group?

Answer 3

Caucasian

Question 4

The most common mutation results in _______ which is retained in __________ and not _________.

Answer 4

Misfolded protein
Retained in RER
And not transported to cell membrane

Question 5

What does the cftr gene encode?

Answer 5

Atp gated cl channel

Question 6

The chloride channel ————— in ___________ and _________ in ________

Answer 6

Secrets
Lungs and GI
Reabsorbs
Sweat glands

Question 7

What happens if the protein is not working properly?

Answer 7

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

Question 8

Increased na reabsorption causes _________ transepithelial difference

Answer 8

Negative

Question 9

What is the diagnosis of cystic fibrosis?

Answer 9

Cl conc in pilocarpine induced sweat test

Question 10

________ leads to ________ ECF volume, stimulates the renin angiotensin system, aldosterone allows ________ of sodium, and concomitant __________. This is contraction _______ and __________

Answer 10

Dehydration, decreased, reabsorption of sodium, K/H wasting, alkalosis, hypokalemia

Question 11

ECF effects are analogous to ____________

Answer 11

Patient taking a loop diuretic

Question 12

In newborns, what is the screening test for cystic fibrosis?

Answer 12

Immunoreactive trypsinogen increased

Question 13

In childhood, there is ______ of pancreas, which leads to __________. This leads to decreased amount of _________ absorption

Answer 13

Duct obstruction, deceased amount of enzymes releasing, decreased fat and protein absorption

Question 14

In childhood, due to pancreatic insufficiency, there is _________ defiencies, and malabsorption with _________, biliary _________, ________ disease

Answer 14

Far soluble vitamin (A, D, E, K), steatorrhea, cirrhosis , and liver

Question 15

In newborns, there is ___________

Answer 15

Meconium ileus

Question 16

Due to loss of ___________, there were recurrent infections of _____________ and _________ which lead to ___________ and _____________

Answer 16

S aureus [early infancy], P aeruginosa [adolescence], chronic bronchitis and bronchiectasis (due to inflammation, the vessel walls dilate)

Question 17

On X ray, what are the cystic fibrosis findings?

Answer 17

Reticulonodular pattern on CXR and opacification of sinuses

Question 18

What happens to men in cystic fibrosis?

Answer 18

Absence of vas deferens, spermatogensis may be un affected

Question 19

What happens to women in cystic fibrosis?

Answer 19

Sub fertility (ameonrrhea, abnormally thick cervical mucus)

Question 20

What are the other findings in cystic fibrosis?

Answer 20

Nasal polyps, clubbing of nails

Question 21

What is the treatment of cystic fibrosis in terms of therapy?

Answer 21

Chest physiotherapy

Question 22

Which bronchodilator is used in cystic fibrosis?

Answer 22

Albuterol, aerosolized dornase DNase

Question 23

What drug facilitates mucus clearance?

Answer 23

Hypertonic saline

Question 24

What drug is used as anti inflammatory agent?

Answer 24

Azithromycin

Question 25

Which drug slows down disease progression?

Answer 25

Ibuprofen

Question 26

In patients with Phe508 deletion, which drugs can be useful?

Answer 26

Combination of lumacaftor (corrects the misfolded protein and improves their transport to cell surface) and also ivacaftor (opens chloride channels, improves chloride transport)