Flashcards in Cystic Fibrosis Deck (11):
Defect in ATP-binding cassette transporter gene on chromo 7 that encodes for CFTR protein.
Most common mutation is F508del
Epithelial chloride channel. Has signaling effects on other membrane channels.
Issues with it cause problems in salt/water movement across cell mems.. leading to abnormally thick secretions and critically altering host defnese in lung.
Typical features of CF
-Greasy, bulky, foul-smelling stools
-Failure to thrive
-Recurrent respiratory and chronic sinus infections
-Bronchiectasis (damged/expanded air ways)
-Sweat chloride > 60
Clinically may see...
Tachypnea (breathing fast), retractions, nasal polyps, severe dehydration and so on
Most common CF presentation
Failure to thrive. 85% have pancreatic insufficiency.
15% of CF newborns. Severe intestinal obstruction. Basically baby poop is stuck.
Productive cough, wheezing, chronic bronchitis, recurrent pneumonia, progressive obstructive airway disease, exercise intolerance, dyspnea (shortness of breath), hemoptysis (coughing blood)
Diet (enzymes, high calorie, salt supplement), airway clearance (percussiion, pulmozyme inhaled, inhaled saline, bronchodilators), antibiotic therapy (TOBI, inhaled), anti-inflammatory (ibuprofen), CFTR modulators
Ivacaftor only for ppl with G551D mutation
Lumacaftor/ivacaftor combination: 12 years and older, 2 copies of F508del.