Cystic Fibrosis Flashcards
On which gene and which chromosome is the mutation for CF?
CFTR gene
Chromosome 11
What does the mutated gene in CF usually do?
CFTR gene usually codes for transmembrane transporter which transports Cl- ions
What does CFTR stand for?
Cystic fibrosis transmembrane regulator
How does chloride ion transport most commonly come to be compromised in CF?
Amino acid change resulting in improper folding in RER and so is destroyed before reaching apical membrane
What signs/symptoms occur in CF?
Thickened mucus- lungs, pancreas etc. Salty sweat. Male infertility. Poor growth/weight gain. Persistent infections and coughing.
Why does male fertility occur in CF?
Thickened mucus blocks vas deferens so sperm cannot reach urethra
Why might a patient with CF be short and underweight?
Thickened mucus blocks pancreatic duct, less enzymes reach small intestine, less efficient digestion.
Why are lung infections very common for those with CF?
Thickened mucus is harder to remove from lungs, harder to remove via mucociliary escalator, bacteria become stuck in mucus, and harder to clear the mucus.
Why would a patient with CF have very salty sweat?
Less CFTR channels so less Cl- reabsorbed in sweat gland duct, so more Cl- present in sweat on skin. As more Cl- is in the duct, less Na+ is reabsorbed and so more Na+ also is present in sweat on skin.
Why do those with CF have thickened mucus?
No/fewer Cl- transporters so more remains in the cells. As Cl is - and Na is + Na+ also remains in cells (less leaves cells). Changes osmotic gradient and so water is reabsorbed into the epithelium and so mucus becomes dehydrated.
How may patients with CF get diabetes?
Due to thickened mucus blocking pancreatic duct, digestive enzymes cannot leave pancreas, accumulate and ‘digest’ pancreas causing pancreatitis(scarring) and so impairs ability to produce insulin.
List some complication of CF
*pancreatitis *diabetes *inability to gain weight *tiredness (from malnutrition) *liver disease (due to blocked bile duct) *infertility *sinusitis *osteoporosis/arthritis
Treatment/management ideas for CF
Enzyme supplements, lipase etc. Bronchodilators, antibiotics, mucolytics, manual draining techniques by physiotherapists
What is the genetic inheritance of Cystic Fibrosis?
Autosomal recessive
