Cystic Fibrosis 3 Flashcards
What is the most common autosomal recessive disorder in caucasians?
Cystic fibrosis
How many people have the CF gene?
1:25
How many people suffer from CF?
1:2500
Why has survival of CF gotten better?
CF centres
MDT teams
Physio
Nutrition/enzymes
Antibiotics
Aggressive approaches
Annual flu vaccine
What is the life expectancy for someone with CF?
37 years
Where is the CF gene located?
Chromosome 7
What does a mutation of the transmembrane conductance regulator protein cause?
Abnormal transport of chloride and sodium across epithelium
Reduced chloride secretion from epithelium
Reduced sodium absorption form lumen
What does a mutation of the CF gene lead to?
Thick secretions and impaired bacterial killing via neutrophils as normal chloride is required
What is the heterozygous advantage of CF?
Mice resistant to salmonella and cholera toxin
How many classes of mutations of the CF gene are there?
6
What percentage of CFTR function do you need to have sufficient pancreatic function and be asymptomatic?
5%
What are some challenges for patients with CF?
Transition
Prognosis
Promise of new drugs
Possibility of lung transplant
Other conditions
Media/social media pressures
What are some other conditions that can co-incide with CF?
Diabetes
Liver disease
Osteoporosis
Fertility issues
Haemoptysis
Mental health issues
What are the presentations of CF in adults?
Infertility in men
Bronchiectasis
Recurrent infections
Hyperinflation
Clubbing
What does CF lead to pulmonary infection?
Decrease in mucociliary clearance
Increase in bacterial adherence
Decrease in endocytosis of bacteria
What are some respiratory problems that CF can cause?
Progressive bronchiectasis
Recurrent lower respiratory tract infections
Progressive airflow obstruction
Respiratory failure
How is diabetes associated with CF?
Type 1 rarely seen
Type 2 often preceded for years by falling lung function
What issues coming with being diabetic and having CF?
Compliance with diet
Low sugar/high fibre diet not appropriate
OGTT/HbA1c used but not perfect
Insulin of benefit, but not so much oral hypoglycaemics
What does OGTT stand up for?
Glucose tolerance test
What does HbA1c stand up for?
Average blood glucose levels for the last 2 to 3 months
What is osteoporosis?
Condition that weakens the bones, making them fragile and more likely to break
What is a condition that weakens the bones, making them more fragile and likely to break called?
Osteoporosis
How does osteoporosis affect bone remodelling?
Slower gain, faster loss
What may osteoporosis exclude?
Lung transplant
What could osteoporosis occur due to?
Malnutrition and low BMI
Steroids
Delayed puberty and hypogonadism
Inflammatory cytokines from sepsis
Vitamin D/K deficiency
Drugs
What vitamin deficiency can lead to osteoporosis?
Vitamin D and K
What does BMD stand up for?
Bone mineral density
What are predictors of a low bone mineral density (BMD)?
Low FEV1
Steroids
Low BMI
Low exercise
Age
Male
Diabetes
Vitamin D
Delayed puberty
What percentage of CF patients get a pneumothorax in their life?
3-4%
How many CF patients are older than 18 years old?
50%
What is the chance of a pneumothorax reoccurance for CF patients?
50%
What is the treatment for CF patients with a pneumothorax?
Same as normal (drain, pleurodesis, surgery)
What is haemoptysis?
Coughing up blood
What is coughing up blood called?
Haemoptysis
Why does haemoptysis occur?
Bronchial wall destruction
What are the risk factors of haemoptysis?
Severity
Exacerbations
Fungal
Liver disease
Vitamin K deficiency
How do the typical types of bacteria that cause infections change with age?
Different ones cause a greater proportion at different ages
How does colonisation of pseudonomas aerugosa change with age?
Colonisation increases with age
Where is pseudonomas aeruginosa acquired from?
Environment (particularly hospitals)
Other CF patients
Segregation and disinfection policies
What is colonisation of pseudonomas aeruginosa associated with?
Reduced life expectancy (28 years)
Rapid decline in lung function
What can be said about pseudonomas aeruginosa and antibiotic resistance?
Rapidly acquired antibiotic resistance
What is the life expectancy of someone with CF who has a colonisation of pseudonomas aeruginosa?
28 years
What does pseudonomas aeruginosa produce?
Toxins that destroy bronchial epithelium
Where is burkholderia cepacia acquired from?
Environment
Other CF patients
Segregation policies
What is colonisation of burkholderia cepacia associated with?
Reduced life expectancy (16 years)
Rapid decline in lung function
Do worse in pregnancy
What is the life expectancy of someone with CF and a colonisation of burkholderia cepacia?
16 years
What can be said about burkholderia cepacia and antibiotic resistance?
Innate resistance to most antibiotics
When does colonisation of sternotrophonas maltophilia occur?
Usually after pseudomonas but can occur as first gram negative infection
What can be said about sternotrophonas maltophila and antibiotic resistance?
Multiple antibiotic resistance
How does sternothrophonas maltophilia affect the CF prognosis?
Unsure if detrimental to prognosis
Where is aspergillus acquired from?
The environment not person to person
What percentage of CF patients is atypical mycobacterium?
13%
What is the most common atypical mycobacterium found in CF patients?
Mycobacterium abscessus (75% of mycobacterium)
When should atypical mycobacterium be treated?
If clinical/lung function/chest X-ray deteriation
What can be said about transplanation for patients with mycobacterium abscessus?
Conta-indication
What does eradication of mycobacterium abscessus require?
1 month in the hospital then maintenance treatment for 1 year which has side effects and can lead to failure
What is involved in the management of a pulmonary infection?
Treat early and aggresively with antibiotics
Oral antibiotics (staph, haemophillus, pneumococcus)
IV antibiotics (strenotrophomonas, burkholderia)
For what organisms should oral antibiotics be used for pulmonary infections?
Staph, haemophilus, pneumococcus
For what organisms should IV antibiotics be used for pulmonary infections?
Stenotrophomonas, burkholderia
What should be done if the organisms causing a pulmonary infection are multiple resistant?
Test for synergy between antibiotics
Why do some CF patients use bronchodilators?
They have an airway obstruction
Why might CF patients have an airway obstruction?
Asthma/atopy
Mechanical (bronchhial plugging, inflammation)
What is airway clearance done by?
Chest physio
What does chest physio involve?
Autogenic drainage
Active cycle of breathing
Huffing
Airway oscillating devices (PEP device)
Percusion vests
What are mucolytics?
Drugs that reduce viscocity of phelgm
What are drugs that reduced viscosity of phelgm called?
Mucolytics
What are examples of mucolytics?
Pulmozyme
Hypertonic saline
Carbocysteine
Bronchitol
What effects does azithromycin have?
Anti-inflammatory and antibacterial
What does treatment with azithromycin do?
Increases lung function
Decreases lung decline
Decreases exacerbation rate
What are new drugs for CF called?
Potentiates and correctors
What do potentiates and correctors do?
Address different processes in CFTR production, processing, folding, transport and insertion into the membrane
What can you say about the price of potentiates and correctors?
They are very expensive, with some costing more than £100,000 per year per patient
What are examples of potentiates and correctors?
Ivacaftor
Ivacaftor/lumbacaftor (orkambi)
Tezacaftor/ivacaftor (syndeco)
What is orkambi a combination of?
Ivacaftor/lumbacaftor
What is syndeco a combination of?
Tazacaftor/ivacaftor
What are indications for lung transplantation?
Rapidly deteriorating lung function
FEV1 < 30% predicted
Life threatening exacerbations
Estimated survival < 2 years
How many people die on the waiting list for a lung transplant?
30-40%
How many people survive 5 years after a double lung transplant?
70-80%
How many people survive more than 10 years after a double lung transplant?
50%
What are things that can improve quality of life?
Lung transplant
Oxygen
Exercise
Support
Advanced care planning
