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%
What effects can having lung tumours have on the body? (7 points)
- Cough
- Haemoptysis (blood stained sputum)
- Pneumonia
- Metastasis - bone, liver, brain
- Dysphagia
- SVC obstruction (superior vena cava)
- Recurrent laryngeal nerve palsy (hoarse)
What is haemoptysis?
- Blood stained sputum
What is obstructive sleep apnoea?
- Airway obstruction whilst asleep (10 secs or more duration)
- Airway muscle tine drops
What are the symptoms of obstructive sleep apnoea? (4 points)
- Airway obstruction whilst asleep
- May snore
- Drowsiness during the day
- Increased risk of MI (low O2)
What is most common - OSA or central sleep apnoea?
- OSA
- Mixed form possible
How can you measure obstructive sleep apnoea?
- AHI (apnoea/hypopnoea index)
- Score <10 few problems
A CPAP can be used to treat sleep apnoea. What is this?
- Continuous positive airway pressure
- Blows air into the upper airway, not enough to blow it into the lungs but enough to keep the tongue and the airway apart
Mandibular advancement devices can be used to treat sleep apnoea. What are these?
- Pulls mandible forward which pulls tongue forward so less likely to fall back into the larynx
- Very uncomfortable
