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Flashcards in Cystic Fibrosis Deck (10)
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1

What is cystic fibrosis?

Genetic disorder leading to mutations in CFTR on chromosome 7

2

What is the inheritance pattern?

Autosomal recessive

3

What is CFTR?

Cystic fibrosis transmembrane conductance regulator

4

What is the effect of CF?

Thickened secretions due to defective chloride and sodium secretion

5

How is the diagnosis of CF made?

One of
- history of CF in sibling
- positive newborn screening test result
- characteristic phenotypic feature

AND
- increased sweat chloride concentration
- identification of 2 CF mutations
- demonstration of abnormal nasal epithelial ion transport

6

What are the clinical features in newborn?

Failure to thrive
Meconium ileus
Rectal prolapse

7

What are the clinical features in children and young adults?

Wheeze
Cough
Recurrent infections
Malabsorption

8

What are common CF complications?

Respiratory infections
Low body weight - malabsorption + pancreatic insufficiency
Distal intestinal obstruction syndrome
CF related diabetes

9

What is lifestyle advice for CF patients?

No smoking
Avoid other CF sufferers
Avoid jacuzzis
Avoid those with colds
Annual influenza jab

10

How is CF managed?

Chest physio
Antibiotics for exacerbations
Mucolytics
Bronchodilators

Pancreatic enzyme replacement
Fat soluble vitamin supplements