Flashcards in Cystic Fibrosis Deck (10)
What is cystic fibrosis?
Genetic disorder leading to mutations in CFTR on chromosome 7
What is the inheritance pattern?
What is CFTR?
Cystic fibrosis transmembrane conductance regulator
What is the effect of CF?
Thickened secretions due to defective chloride and sodium secretion
How is the diagnosis of CF made?
- history of CF in sibling
- positive newborn screening test result
- characteristic phenotypic feature
- increased sweat chloride concentration
- identification of 2 CF mutations
- demonstration of abnormal nasal epithelial ion transport
What are the clinical features in newborn?
Failure to thrive
What are the clinical features in children and young adults?
What are common CF complications?
Low body weight - malabsorption + pancreatic insufficiency
Distal intestinal obstruction syndrome
CF related diabetes
What is lifestyle advice for CF patients?
Avoid other CF sufferers
Avoid those with colds
Annual influenza jab