Cystic Fibrosis

Question 1

What causes Cystic Fibrosis (CF)?

Answer 1

AR mutation in CFTR gene that damages chloride and water transport leading to abnormally thick mucus in the lungs, neutrophils dump DNA into airway secretions and clogs them due to impaired mucociliary clearance

Question 2

How does CF commonly present?

Answer 2

Young adult with chronic lung disease: cough, sputum, hemoptysis, bronchiectasis, wheezing, dyspnea and recurrent infection

Question 3

What are other symptoms that can be seen in CF?

Answer 3

Sinus pain and Polyps
Meconium Ileus
Pancreatic insufficiency
Recurrent Pancreatitis
Distal intestinal obstruction
biliary cirrhosis
Infertility

Question 4

What is the most accurate test for CF?

Answer 4

Increased sweat chloride with pilocarpine administration

Question 5

What are common CXR and CT findings in CF?

Answer 5

Bronchiectasis
Scarring
Atelectasis
Hyperinflation

Question 6

What is seen on PFT in CF patients?

Answer 6

Mixed pattern: decreased FVC and Decreased DLCO

Question 7

What pathogens are commonly associated with CF?

Answer 7

Psudomonas Aeruginosa
Nontypeable Haemophilus Influenzae
Staphlococcus Aureus
Burkholderia Cepacia

Question 8

What Chloride level in a sweat chloride tests establishes a diagnosis of CF?

Answer 8

> 60mEq/L

Question 9

What are the treatment options used in CF?

Answer 9

Abx: inhaled amnoglycosides
Dornase Alfa
Inhaled bronchodilators: albuterol
Pneumococcal and Influenza Vaccinations
Pancreatic enzyme replacement
Elexacaftor, Texzacaftor and Ivacaftor
Lung transplantation