Cystic Fibrosis Flashcards
What kind of disease is cystic fibrosis?
Genetic disease
How does cystic fibrosis affect a patients physiology?
- Inherited defect in cell chloride channels
- produces excess sticky mucus
- any secretions effected
- lung and pancreas mainly affected
How has life expectancy improved with cystic fibrosis?
1930s - life expectancy = a few months
2000s - 31 years
Gene therapy
What gene affects cystic fibrosis?
What is the most common defect of this gene?
CFTR gene - chromosome 7
- F508del mutation
What type of gene is the cystic fibrosis gene?
Recessive
How many children are affected by cystic fibrosis?
1 in 4
Note: 2 out of 3 are carriers, 1 is healthy
How many population carriers of CF are there?
1 in 25
How many births are affected by CF to some extent?
1 in 2500
Name 4 methods used to detect CF
- Prenatal screening
- where diagnosis is suspected (e.g. sibling has CF) - Perinatal testing
- All children now screened at day 5 - blood spot test
- 9 serious diseases screened including CF - ‘Sweat’ where CF suspected
- measures salt content of sweat
- greater salt in CF patients - CTFR gene testing
- actual mutation depends on ethnicity
What are common CF symptoms in children?
- Troublesome cough
- Repeated chest infections
- pseudomonas, staphylococci - Prolonged diarrhoea
- Poor weight gain
Briefly define cystic fibrosis
CF is a hereditary disorder characterised by lung congestion and infection and malabsorption of nutrients by the pancreas
What are consequences of cystic fibrosis?
- Liver dysfunction
- Prone osteoporosis
- Diabetes symptoms
- prolonged pancreas disease - reduced fertility
- mainly male
How is physiotherapy used to help treat CF?
- Used to help remove the mucous secretions from the lungs
- performed at home by parents
- 10-60 mins daily needed
What medications are used to help treat CF?
- Lungs
- bronchodilators to open airways
- antibiotics to reduce chest infection frequency
- steroids to reduce airway inflammation - Digestive system
- pancreatic enzyme replacement
- nutritional supplements - CFTR Modulators
- allow patients to have normal secretions for a larger proportion of their life
Suitable only for F508del patients (90%) - STEM cell treatments
- replace bad gene with a new copy
- if given to stable cells (‘adult’ cells) the therapy needs repeated every time the cells are replaced
- if given to stem cells ‘adult’ cells will be made with the correct gene=cure
How is exercise used to treat CF?
- Necessary to keep lung functional optimal
- necessary to build physical bulk and strength
