Cystic Fibrosis

Background

100

CFTR meaning

Cystic fibrosis transmembrane conductance regulator 

200

The number of possible mutations of CFTR

>1800 

300

CFTR regulation

CFTR regulates the movement of salt in and out of the cells

400

Test performed to confirm diagnosis of CF 

Sweat chloride test 

>60 mmol/L

500

The most common CFTR mutation

F508del

CFTR Modulators

100

Kalydeco

Ivacaftor

NOT approved for most common F508del mutation

Indicated for CF patients ≥ 2 years old with specific mutations of CFTR gene
G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R, R117H

200

Orkambi

Lumacaftor/Ivakaftor 

Indicated for CF patients ≥ 2 years old with

F508del mutation in the CFTR gene

300

Symdeko

Tezacaftor/Ivacaftor 

Indicated for CF patients ≥ 12 years old with F508del mutation in the CFTR gene or who have at least a single copy of one of 26 specific mutations

400

Trikafta

ELEXACAFTOR/TEZACAFTOR/IVACAFTOR

Indicated for CF patients ≥ 12 years old

with at least one F508del mutation in the

CFTR gene (90% of patients)

500

Test prior to initiation of CFTR modulator

Genotype testing to confirm specific genotype, as each drug is genotype specific 

PERT

100

Enzyme PERT is dosed based off of

Lipase

200

Most common side effects of PERT 

Abdominal pain/constipation

300

Examples of PERT 

Creon, Pancreaze, Pertzye, Ultresa, Viokace, Zenpep

400

Indication for PERT 

In CF patients, the pancreatic ducts become obstructed by mucus which prevents these enzymes from traveling from the pancreas to the small intestine, leading to an inability to digest normal nutrients and fats

500

How PERT should be taken

Right before you eat any meal or snack 

Enzymes must be present and ready to work in the intestine when the food gets there 

Complications

100

Other than the lungs, what organs are affected by cystic fibrosis?

-Pancreas

-Liver

-Bone

200

Patients with CF should be screened at least _____ for depression and anxiety

Annually

300

Factors that affect bone formation and resorption

-chronic infections

-inflammation

-calcium malabsorption

-vitamin D deficiency 

400

Patients with CF are unable to digest 

fat, carbohydrates, and protein

500

CFTR dysfunction leads to loss of ______ cells over time, leading to FE-related diabetes 

Islet β

Pulmonary Therapy

100

Correct sequence of therapy 

1. Inhaled bronchodilators 

2. hypertonic saline

3. dornase alfa 

4. chest physiotherapy 

5. inhaled antibiotics 

200

Purpose of medications in pulmonary toilet

bronchodilators: open the airway

hypertonic saline: mobilize mucus to improve airway clearance 

dornase alfa: decrease viscosity of the mucus to promote airway clearance 

chest physiotherapy: mobilize mucus to improve airway clearance 

inhaled antibiotics: controls airway infection 

300

Duration of tobramycin

28 days on, 28 days off 

Take doses as close to 12 hours but no less than 6 hours apart 

400

Purpose of azithromycin?

Off-label, decrease inflammation and decrease exacerbations 

Dosing: weight based (<40 kg: 250 mg, 40kg+: 500 mg) 3 times/week 

500

Most common infection in CF patients 

Pseudomonas