CF 1

Question 1

most CF patients have a mutation of at least two copies of what mutation referred?

Answer 1

delta F508

Question 2

what are 5 results of the mutations that cause CF

Answer 2

1. decreased chloride permeability
2. dehydrated and tenacious secretions
3. ineffective clearance of secreations
4. luminal obstruction, scarring and dysfunction
5. epithelial cells in multiple systems effected

Question 3

what are some of the common clinical features of CF

Answer 3

Chronic cough
Failure to thrive
Pancreatic insufficiency
Alkalosis
Neonate intestinal obstruction
Clubbing
Rectal prolapse
Electrolyte abnormalities
Absence of vas deferens
Sputum

Question 4

how is CF screened at birth

Answer 4

immunoreactive trypsinogen (IRT)
- elevated levels are not diagnostic

Question 5

how is CF diagnosed

Answer 5

pilocarpine to facilitate sweat; chloride levels greater than 60 = CF (normal is 10-30)

Question 6

Describe pulmonary pathophysiology of CF

Answer 6

1. defective CF gene
2. defective CFTR
3. decreased Cl secretion, increased Na absorption
4. dessicated, tenacious mucus
5. bronchial obstruction

Question 7

increased bronchial obstruction in CF pts leads to what?

Answer 7

increased infection and inflammation, causing more obstruction, leading to bronchiectasis

Question 8

what is bronchiectasis

Answer 8

airways dilate and become less functional

Question 9

what is the problem when WBC’s lyse during a CF infection

Answer 9

They lyse and release DNA, which is very thick and sticky

Question 10

what are the common organisms in CF patient infections

Answer 10

1. pseudomonas aeruginosa- most common and chronic
2. burkolderia cepacia complex - commonly multidrug resistant
3. MRSA

Question 11

when are antibiotics started in CF patients

Answer 11

when they exhibit signs of a pulmonary exacerbation (not when the culture is positive)

Question 12

what are 3 pulmonary monitoring parameters taken every 3 months in CF patients

Answer 12

1. pulmonary function testing
2. sputum cultures
3. symptoms

Question 13

how is pulmonary function testing measured

Answer 13

FEV1 - forced expiratory volume in 1 second

Question 14

what are the treatments for sinus disease in CF pts?

Answer 14

1. intranasal corticosteroids
2. saline irrigation
3. surgery

Question 15

pancreatic enzyme insufficiency in CF patients causes what problems

Answer 15

1. steatorrhea
2. poor nutrition and growth
3. vitamin ADEK

Question 16

CF-related diabetes occurs due to what?

Answer 16

pancreatic fibrosis diminishing insulin secretion (oral diabetes medications are NOT recommended)