Cystic Fibrosis Naw mean?

Question 1

Briefly describe syndrome of cystic fibrosis (CF)

Answer 1

a syndrome of chronic sinopulmonary infections and nutritional abnormalities secondary to malabsorption

Question 2

Cystic FIbrosis (CF) mode of inheritance

Answer 2

autosomal recessive

Question 3

Genetic defect in cystic fibrosis (CF)

Answer 3

caused by a F508del in an ATP-binding transporter gene on chromosome 7 that encodes for the CF Transmembrane Conductance Regulator (CFTR) protein.

Question 4

CFTR protein function

Answer 4

The CFTR protein is an epithelial chloride channel that also has signaling effects on other membrane channels

Question 5

pathophysiology underlying CF lung disease

Answer 5

1. abnormal CFTR»_space;
2. impaired mucociliary clearance»_space;
3. infection and inflammation»_space;
4. bronchiecstasis and lung dmg»_space;
5. functional airway impairment

Question 6

Diagnosing CF

Answer 6

1. Newborn screen
Immunoreactive trypsinogen (IRT) / DNA

2. sweat test

Question 7

Therapeutic approaches to CF

Answer 7

Treating the protein (protein rescue)

The “caftors!”
Ivacaftor
lumacaftor