Cystic Fibrosis Naw mean? Flashcards Preview

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Flashcards in Cystic Fibrosis Naw mean? Deck (7)
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1
Q

Briefly describe syndrome of cystic fibrosis (CF)

A

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

2
Q

Cystic FIbrosis (CF) mode of inheritance

A

autosomal recessive

3
Q

Genetic defect in cystic fibrosis (CF)

A

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

4
Q

CFTR protein function

A

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

5
Q

pathophysiology underlying CF lung disease

A
  1. abnormal CFTR»_space;
  2. impaired mucociliary clearance»_space;
  3. infection and inflammation»_space;
  4. bronchiecstasis and lung dmg»_space;
  5. functional airway impairment
6
Q

Diagnosing CF

A
1. Newborn screen
Immunoreactive trypsinogen (IRT) / DNA
  1. sweat test
7
Q

Therapeutic approaches to CF

A

Treating the protein (protein rescue)

The “caftors!”
Ivacaftor
lumacaftor