Cystic Fibrosis Flashcards
What is the prevalence of cystic fibrosis?
The commonest inherited, life-shortening, disorder amongst the northern european population
How is cystic fibrosis inherited?
As an autosomal recessive trait
What is CFTR?
The gene that codes for ion channels that conduct chlorine
How does cystic fibrosis happen?
A mutation of the CFTR gene
How is the severity of CF measured?
By classing the mutations as class 1 being the most severe, decreasing in severity to class 5
What happens in class 1 mutations?
There is no synthesis of the CFTR protein
What is the function of the CFTR proteins?
Active transport channel for chloride
Regulates liquid volume on the epithelial surface which allows cilia to function normally
What are the common presentations of CF in infants and young children?
Recurrent chest infection
Failure to thrive
What are the common presentations of CF in older children and adults?
Recurrent chest infections
Nasal polyps and sinusitis
Male infertility
What are the less common presentations of CF in infants and young children?
Rectal prolapse Pseudo-Bartter's syndrome Anaemia Oedema Hypoproteinaemia
What are the less common presentations of CF in older children and adults?
Acute pancreatitis
Liver disease
Pseudo-bartter’s syndrome
Atypical mycobacteria
What are the cardinal features of CF?
Pancreatic insufficiency
Recurrent bronchopulmonary infection
How is the pancreatic insufficiency treated?
Using pancreatic enzyme replacement therapy (PERT)
High energy diet
H2 agonist or proton pump inhibitor
How is respiratory tract infection prevented in early years?
Segregation Airway clearance and adjunction Mucolytics Prophylactic antibiotics Annual influenza vaccination
In early years how much of infection is eradicated?
80-90% of cases
What are the common respiratory pathogens in early years of CF?
Staphylococcus aureus
Haemophilus influenzae
What are the common respiratory pathogens in later years of CF?
Pseudomonas aeruginosa
What are the less common respiratory pathogens of CF?
Burkholderia cepacia
Stenotrophomonas maltophilia
Alcaligenes xylosoxidans
Atypical mycobacteria
How can CF manifest in the GI tract?
Dysmotility
Co-exisent disease
What does GI dysmotility cause?
Meconium ileus
Gastro-oesophageal reflux
Distal intestinal obstruction
Constipation/rectal prolapse
What types of GI co-existent diseases can occur with CF?
Crohn’s disease
Celiac disease
How can CF manifest apart from its clinical features and its GI manifestations?
Hepatopathy Upper airway polyps and sinusitis Diabetes Osteopenia Arthropathy Heat exhaustion Bilateral absence of vas deferens Vaginal candidiasis
What are some airway clearance techniques?
Percussion and drainage
Autogenic drainage
Active cycle of breathing
What are the airway clearance adjuncts?
PEP mask
Cornet/Flutter
High frequency chest wall oscillation
