Cystic fibrosis

Question 1

what is cystic fibrosis

Answer 1

an autosomal inherited recessive trait caused by a mutant form of the CFTR gene

Question 2

what does the non mutant form of the transmembrane protein do

Answer 2

controls the chloride balance in cells lining the lungs and the digestive system by channeling the chloride ions in and out

Question 3

if both parents are carriers of the CF gene what are the chances that they will have a child that is affected

Answer 3

1 in 4

Question 4

what does CFTCR stand for

Answer 4

Cystic fibrosis transmembrane conductance regulator

Question 5

what is the normal function of Cystic fibrosis transmembrane conductance regulator

Answer 5

active transport channel for chloride

Question 6

cilia functions abnormally in CF why

Answer 6

This cleansing action of the cilia is impaired in CF because of the presence of very sticky mucus and dry airways

Question 7

describe neonatal screening for CF

Answer 7

heelprick test day 5

screens for immuno-reactive trypsinogen in blood

Question 8

if the presence of immuno-reactive trypsinogen is high what is the next step

Answer 8

mutation analysis performed

Question 9

if a newborn has undergone screening for mutation analysis and screened positive, what would you do next

Answer 9

refer for a sweat test to test for cl in sweat

Question 10

a false positive result can be obtained for sweat cl tests why

Answer 10

sweat cl is naturally high in newborns and gradually levels out

Question 11

is there any benefit associated with screening and CF prognosis

Answer 11

there is a nutritional benefit from screening

Question 12

what level of chloride in sweat is indicative of CF

Answer 12

> 60

Question 13

what care teams are involved in managing cystic fibrosis

Answer 13

specialist multi-disciplinary team

primary care to give early treatment of infections and keep monitored

Question 14

what are the 2 cardinal features of CF

Answer 14

pancreatic insufficiency(85-90%)
Failure to thrive

Question 15

describe the pancreatic insufficiency CF patients experience

Answer 15

Abnormal stools as failure of fat absorption

failure to thrive as they may have deficiencies of fat soluble vitamins

Question 16

what is the treatment of pancreatic insufficiency in CF patients

Answer 16

enteric coated enzyme pellets
high energy diet
fat-soluble vitamin and mineral supplements
H2 antagonist

Question 17

what are H2 antagonists

Answer 17

class of drugs that help reduce stomach acid. They are prescribed for CF patients in an effort to create a more alkaline environment so the pancreatic enzymes can do their job. They can help break up clumps of undigested food that lead to distal intestinal obstruction.

Question 18

in terms of infection what are CF patients prone to

Answer 18

recurrent bronchopulmonary infection ( esp stap aures )

Question 19

what can be done to prevent patients with CF getting respiratory infections

Answer 19

segregation to prevent cross infection
airway clearance 
mucolytics
prophylactic antibiotics
annual flu vac

Question 20

what are common respiratory pathogens to patients with CF

Answer 20

Staphylococcus aureus and Haemophilus influenzae in early years
Pseudomonas aeruginosa later

Question 21

what are other health complications that patients with CF can experience (7)

Answer 21

GI dysmotility
co-existent disease ( e.g Crohn's and coeliac)
hepatopathy
diabetes
bone problems
heat exhaustion 
upper airway polyps and sinusitis

Question 22

what are urology related health problems a CF patient can experience

Answer 22

Bilateral absence of vas deferens

Vaginal candidiasis; stress incontinence