Cystic Fibrosis

Question 1

How many disease-causing mutations have been identified in the CF gene?

Answer 1

1500

Question 1

What are some respiratory problems associated with CF?

Answer 1

chronic sinus and respiratory infections, Bronchiectasis

Question 2

What is the problem with the pancreas in CF?

Answer 2

failure of the pancreas to produce sufficient digestive enzymes to allow breakdown and absorption of fats and protein; also can have CF related diabetes

Question 2

What is Ivacaftor?

Answer 2

a CFTR potentiator given to pts with at least one G551D or gating mutation

Question 4

What is the median life span of pts with CF?

Answer 4

37

Question 4

What is Lumacaftor?

Answer 4

a CFTR corrector for pts with 2 copies of the F508del mutation

Question 5

What is tobramycin?

Answer 5

an inhaled antibiotic

Question 5

What happens to the periciliary layer in CF pts?

Answer 5

the cilia cannot beat b/c they are so bogged down with thick mucus

Question 6

CF should also be considered in infants and children who present with severe _____ and hypochloremic metabolic alkalosis.

Answer 6

dehydration

Question 6

What are the airway management treatments for CF?

Answer 6

Daily percussive therapy, Recombinant human DNAse, Inhaled hypertonic saline, azithromycin, and Bronchodilators

Question 8

Why are most male CF pts infertile?

Answer 8

the vas deferens doesn’t develop

Question 9

What is steatorrhea?

Answer 9

excess fat in the feces

Question 10

Infants with undiagnosed CF may also present with hypoproteinemia with or without edema, _____, and deficiency of _____.

Answer 10

anemia; the fat-soluble vitamins

Question 11

An acute change in respiratory signs and symptoms from the subject’s baseline is called a _________.

Answer 11

pulmonary exacerbation

Question 12

The most common CF mutation is the _______.

Answer 12

F508del

Question 12

What is bronchiectasis?

Answer 12

chronic enlargement of airways in the lungs (bad)

Question 12

CF should also be considered in infants and children who present with severe dehydration and _______.

Answer 12

hypochloremic metabolic alkalosis

Question 12

The CFTR functions as an ______ and controls the movement of ____ and _____ into and out of cells.

Answer 12

ion channel; salt; water

Question 13

Name 2 CF physical signs.

Answer 13

clubbing of the fingernails; nasal polyps

Question 15

What is the result of a defective or deficient CFTR?

Answer 15

abnormally thick secretions in various organ systems and critically altering host defense in the lung

Question 17

_______ occurs in more than 85% of persons with CF.

Answer 17

Pancreatic insufficiency

Question 18

What is unique about the stools in CF pts?

Answer 18

they’re greasy, bulky, and malodorous

Question 19

Pancreatic insufficiency occurs in more than ____ of persons with CF.

Answer 19

85%

Question 21

How is CF inherited?

Answer 21

autosomal recessive

Question 22

How is inflammation treated in CF?

Answer 22

high dose ibuprofen

Question 24

CF is caused by a ________ gene.

Answer 24

defect in an ATP-binding cassette transporter

Question 26

What is the false negative rate for CF?

Answer 26

1-5%

Question 26

Approximately 15% of newborns with CF present at birth with \_\_\_\_\_\_.

Answer 26

meconium ileus

Question 27

Why do untreated CF pts present with failure to thrive?

Answer 27

exocrine pancreas insufficiency

Question 28

What is a pulmonary exacerbation?

Answer 28

An acute change in respiratory signs and symptoms from the subject’s baseline

Question 29

What is an issue with the liver in CF?

Answer 29

focal sclerosis

Question 31

What eventually becomes the predominant pathogen in lung infections in CF patients?

Answer 31

Pseudomonas aeruginosa

Question 32

What are the dietary treatments for CF?

Answer 32

enzyme supplementation, high calorie, high protein, high fat diet, fat soluble vitamin supplements, and salt supplements

Question 33

Infants with undiagnosed CF may also present with ______ with or without \_\_\_\_, anemia, and deficiency of the fat-soluble vitamins.

Answer 33

hypoproteinemia; edema

Question 34

The _____ functions as an ion channel and controls the movement of salt and water into and out of cells.

Answer 34

CFTR

Question 35

What is meconium ileus?

Answer 35

severe intestinal obstruction resulting from inspissation of tenacious meconium in the terminal ileum

Question 37

What is the diagnostic sweat chloride level in CF?

Answer 37

\> 60 mmol/L

Question 38

What is the incidence rate of CF?

Answer 38

1:3000 Caucasians; 1:9000 Hispanics

Question 39

Name the fat soluble vitamins.

Answer 39

A, D, E, and K

Question 40

Where are the CF genes located?

Answer 40

chromosome 7

Question 41

What is aztreonam?

Answer 41

an inhaled antibiotic