cystic fibrosis

Question 1

what is cf and what causes it?

Answer 1

genetic disorder

mutation of CFTR gene meaning less chloride can leave cells due to issue with CFTR channel protein. Leads to a build-up of sticky mucous in mainly the lungs, pancreas and sex organs.

Question 2

what is the most common mutation for CF?

Answer 2

deltaF508 the deletion of phenylalanine

Question 3

what 4 ways can CF be screened for?

Answer 3

prenatal testing e.g. amniocentesis

neonatal testing - children screened day 5 with a blood spot test

CFTR gene testing

sweat test - greater Cl- is positive test

Question 4

what symptoms may children experience?

Answer 4

abnormal thick mucous secretions

poor weight gain and nutrient absorption

troublesome cough

repeated chest infections e.g. pseudomonas and staphylococci

prolonged diarrhoea

Question 5

what are some systemic consequences of CF

Answer 5

repeated respiratory infection

pancreatitis from pancreatic enzymes causing inflammation

liver dysfunction

diabetes symptoms

reduced fertility in men mainly

prone to osteoparosis

Question 6

give some treatments for cystic fibrosis

Answer 6

physiotherapy to remove mucous

nutritional therapy to promote healthy weight gain and vitamin absorption

medication

pancreatic enzyme replacement and nutrition supplements

stem cell treatment

gene therapy to replace with a new gene

CFTR modulators

Question 7

what medicines may be given for cf?

Answer 7

Ivacaftor - opens a mutated channel

tezacaftor - facilitate folding of the protein CFTR