Cystic Fibrosis Flashcards
what type of disorder is cystic fibrosis?
an autosomal recessive inherited disorder
how does CF affect ion transport?
it results in defective chloride ion transport across cell membranes
what is affected by defective chloride ion transport?
this affects exocrine glands in the digestive tract, reproductive organs and airways
what causes CF?
CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR gene)- located on chromosome 7
where is the CFTR gene located?
chromosome 7
what does a mutation in the CFTR gene cause?
abnormal expression of the CFTR protein ( a chloride ion channel)
how does CF affect different areas of the body?
Sinusitis (infection)
Lungs- thick, sticky mucus build-up, bacterial infection, widened airways
Skin- sweat glands produce salty sweat
Liver- blocked biliary ducts
Pancreas- blocked pancreas ducts
Intestines- cannot fully absorb nutrients
how are most CF cases detected?
using the newborn heel prick blood test
how many classes of CFTR gene mutations are associated with CF?
6
How does mucus obstruction come about in CF?
- chloride transport out of the cell is impaired
- chloride and accompanying sodium levels inside the cell increase
- water is retained inside the cell (osmotic effect)
- secreted mucus on the outside of the cell therefore has lower water content (dehydrated mucus)
- this causes mucus to be thick and sticky
what are the respiratory symptoms of CF?
- persistent coughing and wheezing
- impaired mucociliary clearance
- excessive mucus production (thick mucus in bronchi)
- recurrent respiratory infections (including pneumonia)
- bronchiectasis in later stages
name some non-respiratory symptoms of CF
- difficulty putting on weight
- jaundice
- osteoporosis
- diabetes
- male infertility
- liver problems
- salty sweat
what are some treatments to help CF?
Digestive enzyme supplementation- replaces blocked pancreatic enzymes and controls malabsorptionsorptive symptoms.
Antibiotics- to deal with infection
Mucolytic medication- to break down thick mucus
Bronchodilators- to improve airway patency
how can physiotherapists help with CF?
Our role is to improve airway function and clear mucus by:
- active cycle of breathing (ACBT) – helps to clear mucus
- autogenic drainage – shifts mucus from smaller to larger airways
- Positive Expiratory Pressure (PEP)
