Cystic Fibrosis Flashcards
1
Q
genetics
A
- most common mutation is deltaF508 coding for CFTR channel
- chloride ions pass out of cells through this channel and draw water into secretions making them more watery
- defective means thick, sticky secretions
2
Q
pancreatic manifestations
A
- blockage of exocrine ducts - pancreatic insufficiency
- steatorrhoea, malabsorption etc
- eventually leads to build of pancreatic enzymes causing autodestruction of pancreas
- leads to acute pancreatitis and eventialy chronic - scarring
- can affect endocrine pancreas - alpha and beta cells
3
Q
how does CF cause DM
A
- auto destruction of exocrine pancreas eventually affects endocrine pancreas
- B cells produce less insulin
4
Q
what type of therapy is recommended for diabetes
A
insulin
5
Q
screening for DM
A
OGTT every ten years
6
Q
chest manifestations
A
- mucociliary dysfunction, chronic infection and inflammation that eventually results in the destruction of lung tissue
- the slime forms a protective biofilm around bacteria
- there may be haemoptysis if the infection invades blood vessels
7
Q
infertility in males
A
due to the failure of development of the vas deferens
8
Q
screening for pancreatic dysfunction
A
faecal elastase test - exocrine function assessment
9
Q
2 diagnostic tests
A
- sweat test
- genetic screening for CFTR mutations
10
Q
presentation in the newborn
A
- meconium ileus - surgical emergency
- abnormally prolonged jaundice
- malabsorption, steatorrhoea, failure to thrive
- recurrent chest infections
