CF, lung cancer and sleep apnoea Flashcards
what type of disorder is cystic fibrosis?
inherited respiratory disorder
what gene is effect in CF?
CFTR gene - chromosome 7
recessive gene
pattern of inheritance for CF
recessive gene so both parents need to have the gene defect
- 1 in 4 children affected
- 2 in remaining 3 carriers
- 1 healthy
how many are CF carriers in the population?
1 in 25
reasonably high chance of 2 meeting with recessive gene
what determines how badly someone is impacted by CF?
gene expression
carriers can still have side effects
predictability of CF
genetics is random so there is no way to predict if individual will have CF
Population based statistics cannot be applied to individual
what channels are effected in CF
chloride channels
what is the result of the chloride channel defect in CF
Produces excess sticky mucous (like glue, thick, sticky usually thin like saliva. Thick is hard to move, needed to remove dirt and debris in lungs, secretory ducts become blocked)
Lung and pancreas mainly affected
characteristics of CF
Characterised by lung congestion and infection and malabsorption of nutrients by the pancreas
Depends on individual reaction to disease and treatment on how they are affected
main CF diagnosis
perinatal testing
perinatal CF testing
All children now screened at birth (heel prick test)
- Blood
Know very early on so treatment more immediate
secondary (later) CF test
sweat test’
-Measures salt content of sweat
Greater salt in CF patients (due to chloride channel defect)
sweat salt content in CF
Greater salt in CF patients (due to chloride channel defect)
main CF symptoms
troublesome cough
repeated chest infections
prolonged diarrhoea
poor weight gain
what organisms commonly cause chest infection in CF patient
Pseudomonas, staphylococci
Unusual organisms (not normal cause problems, weak pathogens in lungs)
why do CF patients get prolonged diarrhoea
Unable to digest fat
- Digestive enzymes not secrete by pancreas
- Cannot digest or absorb energy from fat
Poor nutrition
- Need high carbohydrates as lack of energy = can lead to dental problem
Can give pills to replace digestive enzymes secreted by pancreas
other less common CF symptoms
liver dysfunction
prone to osteoporosis (not absorbing nutrients)
diabetes symptoms (prolonged pancreas disease)
reduced fertility - mainly male
4 categories of CF treatment
physiotherapy
medication
exercise
transplantation
(gene therapy?)
first point of treatment
physiotherapy
physiotherapy treatment of CF
Used to help remove the mucous secretions from the lungs
- Lungs filled with sticky gel = high infection chance
Performed at home by parents
- Needs carried out several times of day
- Moving the child around as lung lobes feed in at different angles, drain mucous towards main airway by gravity
10-60 mins daily needed
Carried on throughout life
medication CF treatment targets which organ(s)
lungs
digestive system
lung medication treatment for CF (4)
Bronchodilators to open the airways
- Wider = easier to remove mucous
Antibiotics to reduce Chest infection frequency
- Need fairly frequently
- Bacteria becomes resistant
- Need to reduce general antibiotic use. Keeps CF antibiotic use more effective
- Organisms which cause infections in CF become resistant quickly
Steroids to reduce airway inflammation
Dnase to break down mucous
digestive system medication treatment for CF (2)
Pancreatic enzyme replacement
- Creon – mixture of pancreatic enzymes
- Need to swallow them – not swallow so enter deep into GI tract with food so digestion occurs in tract
Nutritional supplements
2 reasons for exercise CF treatment
Necessary to keep lung function optimal
- Clear airway due increased breathing rate
Necessary to build physical bulk and strength
details transplantation CF treatment
Not a cure
End stage lung disease
- also affects heart (cor pulmonale)
- Changes in lung in CF makes it harder to pump in lungs so need to complete transplant of both
Heart-lung transplant
- Survival: 70% survive up to 2 years
Longest survival about 12 years
- More practical
why CF transplantation is heart and lung?
Changes in lung in CF makes it harder to pump in lungs so need to complete transplant of both
trials of gene therapy for CF
Replace with correct gene and problem resolves
Relatively easy to get gene into adult cells – virus as a carrier into cells
- When they die and are replaced they are replaced by same faulty cell by stem cell
Need to alter stem cell replication to resolve the issue
what are almost all lung tumours?
malignant
most common lung tumour type
squamous cell carcinoma (40%)
types of lung tumours
- squamous cell carcinoma (40%)
- small cell (25%)
- large cell (20%)
- adenocarcinoma
issue with lung tumours
Issue with all lung cancers – don’t present until quite advanced
No symptoms till far down the line
Ruptured to lung surface
effects of lung tumours
cough
haemoptysis
pneumonia
metastasis to bone, liver, brain
dysphagia
SVC obstruction
Recurrent laryngeal nerve palsy
cough caused by lung tumour because
irritation of airway from tumour
what is haemoptysis
blood stained sputum
how does a lung tumour lead to haemptysis
tumours are very vascular
can lead to white-green sputum with blood streaks
how can lung tumours cause pneumonia
tumour Grown across the airway,
anything distal to tumour cannot escape more likely for swelling, inflammation and system infection
how can a lung tumour lead to dysphagia
squamous cell carcinoma tumours tend to be close to hilum
Tumour where trachea bifurcates (T4) oesophagus behind, bolus cannot go through compressed oesophagus
how can a lung tumour lead to SVC obstruction
Blockage of main artery draining head and neck
- Venous hypertension
- Increased capillary [pressure
- Swelling and prominent veins in head and neck as fluid is trapped
effect of recurrent laryngeal palsy
hoarse voice
one side of larynx is paralysed
3 common symptoms of lung tumours
trouble swallowing, hoarseness and swollen head veins
effect of stopping smoking on lung tumour
less common
peripheral lung tumours tend to be
not squamous cell carcinomas
treatment options for most large cell lung tumours
inoperable
- keep patient alive with palliation till death
success surgically if tumour spread
lower
rely on immunotherapy
whats key to early lung tumour diagnosis
promotion of prevention (decrease smoking)
= better chance of survival
what lung tumour type is smoking related?
squamous cell carcinoma
obstructive sleep apnea
Airway obstruction whilst asleep
- 10secs or more duration, Temporary stops breathing
- Airway muscle tone drops
Blood Oxygen levels drop
- Chronic hypoxia
May be snorers - may not (central)
Increased risk of MI (low Oxygen, chronic hypoxia suffered at night)
- Treat to improve SURVIVAL
Treat = live longer
symptoms of sleep apnea
Drowsiness during the day
- Fall asleep driving
May be snorers - may not (central)
sleep apnea effect on blood oxygen level
drop
- Chronic hypoxia
sleep apnea increases risk of
MI
due to low Oxygen –> chronic hypoxia suffered at night
what is the more common sleep apnea?
obstructive sleep apnea (not central)
central sleep apnea
brain doesn’t tell lungs to breath when asleep = rare
how to measure sleep apnea
Apnoea/hypopnoea index
Score <10 few problems
anatomical description of sleep apnea
Soft palate flops back against airway – block it off unless movement
Asleep with sleep apnoea
- tongue not stable and flops against soft palate too
- Completely occludes airway. No gas into airway
- Body gets so hypoxic after a few mins, the build up of CO2 causes patient to waken up in a few mins to move muscles
- Lead to chronic tiredness
how can obesity effect sleep apnea
Larger pressure at neck = worse the issue
CPAP
Continuous positive air way pressure
- like Hoover in reverse
Blows air into upper airway
- Enough to keep pressure in system to keep tongue in airway up
Need to wear a mask over nose (tend to sleep with mouth shut if OSA)
mandibular advancement devices
Tongue attached to front of mandible
- Pull forward then pull tongue forward less likely to fall back
Measure bite and move mandible forward and stuck to maxilla guard
- Very uncomfortable
2 treatment options for obstructive sleep apnea
CPAP
- Continuous positive air way pressure
Mandibular advancement devices
