83R cystic fibrosis

Question 1

one in how many people carry the gene

Answer 1

1/25

Question 2

in CF there is a lack of function in what

Answer 2

CFTR channels

Question 3

the lack of functioning CFTR channels prevents what getting pumped into where

Answer 3

chloride pumped into the lumen

Question 4

the lack of functioning CFTR channels prevents chloride from being pumped into the lumen. This leads to what

Answer 4

H2O and Na+ leaving the lumen due to sodium absorption into cells

Question 5

H2O and Na+ leaving the lumen due to sodium absorption into cells results in what secretions

Answer 5

thick and sticky due to abnormal salt transport

Question 6

when you have a faulty or lack of functioning CFTR channel, what does this lead to (consequences)

Answer 6

1. Salty Sweat
   
   2. Intestinal Blockage
   3. Fibrotic Pancreas
   4. Failure to Thrive
   5. Recurrent Bacterial Lung Infections
   6. Congenital Bilateral Absence of Vas Deferens - men are infertile - have to go to fertility clinic to get sperm extracted
   7. Filled Sinuses
      8.Gallbladder and Liver disease

Question 7

how many classes of defects of the CFTR are there

Answer 7

5

Question 8

what must you have aat the end of a dna sequence

Answer 8

stop codon

Question 9

what must you have at the start of a dna sequence

Answer 9

promoter

Question 10

what gets spiced out during DNA splicing to make mRNA

Answer 10

introns

Question 11

name 4 mutation effects

Answer 11

missense
deletion (inframe)
premature stop
deletion (frameshift)

Question 12

The CFTR gene is responsible for producing a protein that regulates the movement of salt and water in and out of cells. Mutations in this gene can lead to what

Answer 12

cystic fibrosis

Question 13

Cystic fibrosis effects which systems

Answer 13

resp
GI
reproductive

Question 14

name the 2 main mutations in cystic fibrosis

Answer 14

F508del
G551D

Question 15

which mutation is more common- F508del
G551D

Answer 15

F508del (70%)

Question 16

what health problems do people with CF get

Answer 16

enlarged heart
gallstones
abnormal pancreas function
frequent lung infections
sinus problems
salty sweat
nose polyps (growths)
trouble breathing
trouble digesting food

Question 17

CF patients can come form the bronchiectasis clinic presenting with ….

Answer 17

• Bronchiectasis under 40
  
  • Upper lobe bronchiectasis
  • Colonisation with Staph
  • Infertility
  • Low weight

Question 18

why might people with CF get missed

Answer 18

dont present
present out of hours
present sporadically
failure to think about it
loss of continuity of care

Question 19

what helps get CF identified

Answer 19

low index for suspicion
screening programs
specialist bronchiectasis service
genetics department engagement

Question 20

what must you manage (prophylactic)

Answer 20

antibiotics
pancreas - exocrine, endocrine
bowels
liver

get regular clinic review