Cystic Fibrosis Flashcards
What is Cystic Fibrosis?
A multi-organ disease affecting mainly ductal organs (lungs, pancreas, immune system)
What is the inheritance pattern of CF?
Autosomal recessive
1/2500 live births
1/25 carrier freq
What is the most common mutation in CF?
Mutation in CFTR
Chr7, pos 508, point deletion
What is the main effect of malfunctioning CFTR genes?
Abnormally thick secretions
Pancreatic insufficiency
Recurrent chest infections
What is the life expectancy of a CF sufferer?
> 30yrs
What are the main clinical features of CF?
Pulmonary effects
GI effects
Systemic effects
What are the pulmonary effects of CF?
Recurrent childhood chest infections (failure to thrive) Breathlessness Haemoptysis Spontaneous pneumothorax Chronic sinusitis w/ nasal polyps Resp failure/cor pulmonale
What are the GI effects of CF?
Meconium ileus at birth
Steatorrhoea & malabsorption
Gallstones/peptic ulceration
Cirrhosis (10%)
What are the systemic effects of CF?
Clubbing
Infertility in males, subfertility in females
DM (10%)
Rickets/osteomalacia
What are the causative organisms of infections in CF?
S. aureus
Haemophilus influenzae
G-bacilli
Pseudomonas (later on, poor prognosis)
What is Allergic Bronchopulmonary Aspergillosis?
Body’s response to common aspergillus fumigatus fungus causes worsening breathing problems
What investigations are appropriate in suspected CF?
FBC, LFTs, U&Es, clotting
Na sweat test (>70mmol/L)
DM screening
Sputum cultures
CXR (hyperinflation, evidence of bronchiectasis)
Abdo USS (fatty liver/cirrhosis, chronic pancreatitis)
Spirometry (obstructive defects)
How should the pulmonary aspect of CF be managed?
Physiotherapy A/b for exacerbations Prophylactic azithromycin Mucolytics (DNase nebulisers) Airway clearance devices Bronchodilators Lung transplant
How should the GI aspect of CF be managed?
Pancreatic enzyme replacement (creon)
Fat soluble vitamin supplementation (ADEK)
Liver transplantation for cirrhosis
How should the systemic aspects of CF be managed?
Treatment of DM
Fertility treatment
Genetic counselling
