February 23, 2016 - Cystic Fibrosis Flashcards Preview

COURSE 3 > February 23, 2016 - Cystic Fibrosis > Flashcards

Flashcards in February 23, 2016 - Cystic Fibrosis Deck (11):

Cystic Fibrosis Gene

Located on chromosome 7

Codes for CFTR (cystic fibrosis transmembrane conductance regulator protein)

DeltaF508 is the most common


Effect of Mutated CFTR

Defective chloride transport and enhanced sodium absorption.

The net effect is less water going to the mucociliary layer, which causes thickening, impaired mucociliary clearance, imflammation, and infection.


Chloride Sweat Test

For diagnosis of CF

Sweat chloride is high in CF (>60 mmol/L)

Normal is <30


Which Systems Does CF Affect?

Any system that relies on mucus.

Can present with chronic sinusitis, nasal polyps, repreated LRTI, abnormal sweat secretions, liver disease, pancreatic insufficiency, intestinal obstruction sydrome, finger clubbing, steatorrhea, osteoporosis, intertility, and arthropathy.


Common Presenting Symptoms

Acute or persistent respiratory symptoms

Nasal polyps/sinus disease

Failure to thrive/malnutrition

Steatorrhea/abnormal stools

Newborn screening (in 2016)


Treatment Principles in CF


Chest physiotherapy

Enhance mucus clearance

Antibiotic therapy


Most Common Pathogens in CF

Staphylococcus aureus

Pseudomonas aeruginosa


Fertility in CF

Males are often infertile because of a closed vas deferens.

Females have markedly reduced fertility, but may still become pregnant.


Massive Hemoptysis in CF

Can occur due to erosion into bronchial circulation.

Treatment is ABCs and bronchiol artery embolization.


Ivacaftor (VX-770)

A drug approved for patients with a certain mutation in CF which accounts for about 5% of patients with CF.

Demonstrates an improvement in CF by addressing the underlying cause.

Costs $300,000 USD per year


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