Cystic Fibrosis Flashcards
What is cystic fibrosis
A genetic disease of an inherited defect in cell chloride channels
Produces excess sticky mucous
Which organs are mainly affected by cystic fibrosis
Lungs and pancreas
Is cystic fibrosis curable
Possibly by stem cell therapy
What is the life expectancy of a patient with cystic fibrosis
Around 31
What gene is affected by cystic fibrosis
CFTR gene - chromosome 7
What is the most common cystic fibrosis mutation
F508del mutation
What type of gene is the CFTR gene
Recessive
How many people are carriers of cystic fibrosis
1 in 25
How many births have cystic fibrosis to an extent
2500
How does cystic fibrosis affect chloride ion channels
Can affect the way ion channel opens or the way in which it passes chloride and in some ways prevents the ion channel from functioning at all
How can cystic fibrosis be diagnosed
Prenatal screening - amniocentesis
Perinatal testing - day 5
Sweat test greater salt content in CF patients
CTFR gene testing
What are common CF signs in children
Pulmonary infection would lead to chronic bronchitis in the teenage years and eventually pneumonia
Malnutrition from the lack of fat absorption and the inability of the pancreas to produce enzymes can lead to diabetes as B cells are gradually destroyed
Atypical asthma
Oesophageal varices
Nasal polyps
What are common CF symptoms in children
Troublesome cough
Repeated chest infections
Prolonged diarrhoea
Poor weight gain
What are the consequences of CF
Liver dysfunction
Prone to osteoporosis
Diabetes symptoms
Reduced fertility - mainly male
What are the different treatments for CF
Physiotherapy
Medication
Exercise
Transplantation
Describe how physiotherapy can be used to treat CF
Used to help remove the mucous secretions from the lungs
Performed at home by parents
10-60 minutes daily needed
What lung medications can be used to treat CF
Bronchodilators to open the airways
Antibiotics to reduce chest infection frequency
Steroids to reduce airway inflammation
What digestive system medications can be used to treat CF
Pancreatic enzyme replacement
Nutritional supplements
What other medications can be used to treat CF
CFTR modulators
Stem cell treatments
Describe CFTR modulators
Contains 2 correctors and a potential or of the CFTR channel
Suitable for 508del patients - about 90%
eg - ivacaftor, tezacaftor and elexacaftor
Describe CF stem cell therapy
Replace the bad gene with a new copy
If given to adult cells the therapy needs repeated every time the cells are replaces
If given to stem cells, then adult cells will all be made with the correct gene - cure
Why is exercise important in CF treatment
Necessary to keep lung function optimal
Necessary to build physical bulk and strength
When is transplantation used in CF treatment
Where lung disease has rendered the lungs no longer useable
Offers lungs which are unaffected by the CFTR gene
