Cystic fibrosis, lung cancer & sleep apnea Flashcards
what is cystic fibrosis
an inherited defect in cell chloride channels
what gene is cystic fibrosis caused by
CFTR gene
what chromosome is the CFTR gene present on
7
what type of gene is CFTR gene
recessive
what does cystic fibrosis result in
It produces an excess sticky mucous with the lungs and pancreas mainly being affected
what is used to diagnose cystic fibrosis
perinatal testing
sweat tests
describe perinatal testing for CF
done at birth
blood taken from heel
screened for CF
what is the sweat test
for CF
those with CF have greater salt content
what are the main symptoms of cystic fibrosis
troublesome cough repeated chest infection prolonged diarrhea poor weight gain liver dysfunction in some prone to osteoporosis diabetes symptoms reduced fertility
why do those with CF have a troublesome cough
they struggle to clear the mucus
what do the repeated chest infections of those with CF present as
it is unusual organisms
weak pathogens that would not normally cause problems e.g pseudomonas and stapholocci
why is there prolonged diarrhea
due to an inability to digest fats
pancreas cannot secrete its enzymes
why are CF patients more prone to osteoporosis
they are not absorbing nutrients
why do CF patients have diabetes symptoms
o Islets making insulin are gradually destroyed, becomes diabetic over time
what is the treatment for CF
physiotherapy medication exercise transplantation gene therapy
what is the first port of call for Tx of CF
physiotherapy
what is physiotherapy used for in CF patients
o Used to help remove the mucous secretions from the lungs
o Performed at home by parents
how much Physio is needed for CF patients
10-60 mins a day
what is the aim of physiotherapy for CF patients
o Aim is to drain the mucous into big airways to be coughed up
what are the medications of CF aimed at
lungs
digestive system
what are the medications for the lungs of CF patients for
Bronchodilators to open the airways
Antibiotics to reduce chest infection frequency
Steroids to reduce airway inflammation
Dnase to break down mucus
why do we want to digest mucous in CF patients
makes it easier to cough up
what are the medicines aimed at the digestive system in CF patients
pancreatic enzyme replacement
nutritional supplements
what is the aim of the exercise for CF patients
o Necessary to keep lung function optimal
o Necessary to build physical bulk and strength
what is the aim of transplantation
its not a cure
used for end stage lung disease
what is gene therapy for CF
looking to replace the gene
what is the issue with gene therapy
o It is easy to get the gene into adult cells but the problem is when the cells are dying and replaced they are replaced by the faulty cells from the initial stage
what is the most common lung cancer
squamous cell carcinoma
why do squamous cell carcinomas occur
Squamous cells occur because of irritation of smoking which causes metaplasia.
what are the other lung tumors
small cell lung tumors (25%)
large cell lung tumors (20%)
adenocarcinoma (15%)
what is the effect of lung tumors
cough haemoptysis pneumonia metastasis dysphagia SVC obstruction recurrent laryngeal nerve palsy
what is hemoptysis due to
• Haemoptysis (blood stained sputum)
o Tumours tend to be very vascular and fragile and so can bleed easy on minor irritation
o Patient can cough up blood
why does pneumonia occur because of lung tumors
o If the tumour has grown across the airway then anything distal to the airway cant escape
o Bacteria multiply and pneumonia is a consequence of that
o It results in swelling, inflammation, systemic effects
where does metastasis often spread to
bone
liver
brain
why does dysphagia occur with lung tumors
In a squamous cell carcinoma the tumour roughly sits where the trachea bifurcates. Right behind the trachea is the oeseophagus so the growing tumour can cause a difficulty in swallowing. It will get progressively worse
what is treatment for lung cancers
Treatment differs depending on whether it is a small cell tumour or not
what is treatment for small cell tumor
possibility of chemotherapy or palliation
what is treatment for non small cell tumors
Non-small cell cancers have investigations to see if they are potentially operable. If not then there is possibility of potentially curative radiotherapy/chemotherapy however most common is palliation
what is sleep apnea
Sleep apnoea is airway obstruction while asleep for 10 seconds or more
why does sleep apnea occur
It is because airway muscle tone drops (central) or due to obstruction (obstructive)
what type of sleep apnea are non snorers
central
what can sleep apnea result in
It results in drowsiness during the day and can result in falling asleep whilst driving
Results in an increased risk of MI (due to low oxygen) so should be treated to improve survival as there is a higher chance of acute cardiovascular events in chronic hypoxia
describe what happens in obstructive sleep apnea
breathing pauses due to narrowed or blocked airway
Risk factors are:
○ Palate or airway being able to collapse more easy
○ Large tongue which may fall back and block the airway
○ Large neck or collar size
Large tonsils
why are obese patients more at risk of sleep apnea
The bigger the pressure downwards (when lying down), the worse it is therefore those who are obese end up with worse sleep apnoea.
what are treatments for sleep apnea
continuous positive airway pressure
mandibular advancement devices
what does CPAP do for sleep apnea
It blows air into the upper airway but not enough to force it into the lungs. It is just enough to keep pressure in the system to keep the airway open
what do mandibular advancement devices do
these pull the tongue forward keeping it away from the back of the throat.
