What is the most common autosomal recessive disorder in caucasians?
How many people have the CF gene?
How many people suffer from CF?
Why has survival of CF gotten better?
Annual flu vaccine
What is the life expectancy for someone with CF?
Where is the CF gene located?
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?
What percentage of CFTR function do you need to have sufficient pancreatic function and be asymptomatic?
What are some challenges for patients with CF?
Promise of new drugs
Possibility of lung transplant
Media/social media pressures
What are some other conditions that can co-incide with CF?
Mental health issues
What are the presentations of CF in adults?
Infertility in men
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?
Recurrent lower respiratory tract infections
Progressive airflow obstruction
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?
How does osteoporosis affect bone remodelling?
Slower gain, faster loss
What may osteoporosis exclude?
What could osteoporosis occur due to?
Malnutrition and low BMI
Delayed puberty and hypogonadism
Inflammatory cytokines from sepsis
Vitamin D/K deficiency
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)?
What percentage of CF patients get a pneumothorax in their life?
How many CF patients are older than 18 years old?