Cystic fibrosis lung cancer and sleep apnoea Flashcards
CF is an abnormality in the CFTR gene in chromosome 7. IS it a recessive or dominant gene and what does this cause?
- Recessive gene
- Both parents need to have the gene
- 1 in 4 children affected
- 2 in remaining 3 carriers
- 1 healthy
How many people in the population are carriers of CF?
1 in 25
How many births have CF to some extent?
- 1 in 2500
What is CF and what does it produce?
- Inherited defect in cell chloride channels
- Produces excess sticky mucous
Which 2 organs are mainly affected by CF?
- Lung and pancreas
What 2 tests can you use to test for CF?
Perinatal testing:
- All children now screened at birth - blood
‘sweat test’:
- Measures salt content of sweat (greater salt in CF patients)
What are the main symptoms of cystic fibrosis? (4 points)
- Troublesome cough
- Repeated chest infections (with pathogens that would not usually cause a problem - pseudomonas, staphylococci)
- Prolonged diarrhoea
- Poor weight gain
What are 4 less common symptoms of CF?
- Liver dysfunction in some
- Prone to osteoporosis
- Diabetes symptoms (prolonged pancreas disease)
- Reduced fertility (mainly male)
What are 4 treatments of CF?
- Physiotherapy
- Medication (antibiotics)
- Exercise (helps to clear out pipes)
- Transplantation
Which treatment is the first line of defence of treating CF?
- Physiotherapy
- Because the lungs are full of sticky substances - if this can be removed from the lungs, chances of infection are reduced
How often would someone with CF need physio treatment?
- Performed at home for 10-60 mins daily
What medications can be used on the lungs to help treat CF? (4 points)
- Bronchodilators to open the airways
- Antibiotics to reduce chest infection frequency
- Steroids to reduce airway inflammation
- Dnase to break down mucous
What medication can be used on the digestive system to treat CF?(2 points)
- Pancreatic enzyme replacement
- Nutritional supplements
Why is exercise a good treatment for CF? (2 points)
- Necessary to keep lung function optimal
- Necessary to build physical bulk & strength
IS transplantation a cure for CF?
- No
Why is a heart-lung transplant better than just a lung transplant for CF and what are the survival rates?
- Heart has to work harder with lungs with CF so heart failure is more likely to happen
- 70% survive up to 2 years
- Longest survival about 12 years
How can gene therapy be a treatment for CF and what is the problem of this?
- Gene defect - wrong gene in the system (if can replace this with correct gene then the problem will go away)
- Problem - relatively easy to get gene into adult cells as can use a carrier but when these cells die and are replaced they are replaced with the initial faulty cells
What is the biggest preventable cause of lung cancer?
- Smoking
- Most lung cancers are SCC which are due to smoking
What % of lung cancers are not due to smoking?
- About 40%
Are lung tumours benign or malignant?
- Almost ALL are malignant
What % of lung tumours are squamous cell carcinomas?
- 40% (most common)
- SMOKING related (don’t have squamous cells in lungs - only happens because of irritation from smoking causing metaplasia to the epithelium to become squamous cells)
What % of lung tumours are small cell?
- 25%
What % of lung tumour are large cell?
- 20%
What % of lung tumours are adenocarcinomas?
15%
