Cystic Fibrosis Flashcards
What is the inheritance of cystic fibrosis?
Autosomal recessive
What are the key components of CF?
Thick bile duct and pancreatic secretions
Thick airway secretions
Congenital bilateral absence of vas deferens in males
What gene is mutated in CF?
CFTR gene - chromosome 7
How many people are carriers of the mutation for CF?
1 in 25
What is the presentation of CF?
Meconium ileus
Recurrent LRTIs
Failure to thrive
Pancreatitis
What are the clinical features of CF?
Chronic cough
Thick sputum production
Recurrent respiratory tract infections
Steatorrhoea
Abdominal pain and bloating
Poor weight gain
What are the signs of CF on examination?
Low height and weught
Nasal polyps
Finger clubbing
Crackles and wheeze
Abdominal distention
How is CF diagnosed?
Genetic testing
Sweat test - chloride > 60
Newborn bloodspot test
What is the management of CF?
CFTR modulator therapies - ivacaftor
Chest physiotherapy
Exercise
High calorie diet
Pancreatic enzyme replacement
Prophylactic flucloxacillin
Bronchodilators
Vaccinations
