Cystic Fibrosis Flashcards Preview

M2M Unit IV HM > Cystic Fibrosis > Flashcards

Flashcards in Cystic Fibrosis Deck (11):
1

Inheritance pattern

AR.

2

Caused by?

Defect in ATP-binding cassette transporter gene on chromo 7 that encodes for CFTR protein.
Most common mutation is F508del

3

CFTR

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.

4

Typical features of CF

-Greasy, bulky, foul-smelling stools
-Failure to thrive
-Recurrent respiratory and chronic sinus infections
-Digital clubbing
-Bronchiectasis (damged/expanded air ways)
-Sweat chloride > 60

5

Clinically may see...

Tachypnea (breathing fast), retractions, nasal polyps, severe dehydration and so on

6

Most common CF presentation

Failure to thrive. 85% have pancreatic insufficiency.

7

Meconium ileus

15% of CF newborns. Severe intestinal obstruction. Basically baby poop is stuck.

8

Respiratory presentation?

Productive cough, wheezing, chronic bronchitis, recurrent pneumonia, progressive obstructive airway disease, exercise intolerance, dyspnea (shortness of breath), hemoptysis (coughing blood)

9

Treatment

Diet (enzymes, high calorie, salt supplement), airway clearance (percussiion, pulmozyme inhaled, inhaled saline, bronchodilators), antibiotic therapy (TOBI, inhaled), anti-inflammatory (ibuprofen), CFTR modulators

10

CFTR modulators

Ivacaftor only for ppl with G551D mutation
Lumacaftor/ivacaftor combination: 12 years and older, 2 copies of F508del.

11

Prognosis

Was early childhood, now 35 yeras. Rate of lung disease progression determines survival.