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
