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Cystic Fibrosis/Mucoviscidosis

Pathophysiology Autosomal recessive genetic mutation


Mutation in the CFTR gene on chromosome 7 for the protein cystic
fibrosis transmembrane conductance regultaor
Faulty protein leads to abnormal transport of NaCl across membranes
Excess NaCl leads to thick, viscous secretions
Clogs air passages in the lungs --> difficulty breathing, coughing
Predisposes to infection
Prevents the release of digestive enzymes from pancreas -->
malnutrition
Blocks sperm ducts --> infertility in males
Epidemiology >1 million Australians carry the faulty CF gene
Most common life-threatening genetic condition in Australia
Most common among Caucasians (4% of people of Euro descentare
carriers)
Signs and symptoms Peristent cough, aggravated by exertion
Breathing difficulties
Fatigue, impaired exercise ability
Sinus infections
Poor growth
Salt loss in hot weather --> weakness
Poor appetite
Diagnosis Carrier testing (using PCR of FISH)
Only offered to those with a family history of CF
Not conclusive because there are >900 mutations of the gene
Diagnosis at birth:
Blood spot test for abnormal raised immunoreactive trypsinogen
If positive, sweat test is done to measure salt content
Diagnosis before birth (using PCR or FISH):
Only offered to those with a family history of CF
Chorionic villus sampling (10-12 weeks, risk of fetal death 1 in 100)
Amniocentesis (16-22 weeks, risk of fetal death 1 in 200)
Not conclusive because there are >900 mutations of the gene
Risk factors Family history
Complications Meconium ileus
1/10 babies will get it within the first few days of life
Meconium (thick black material present in all neonates) abnormally
thick, obstructing the bowel
Need urgent bypass operation
Lung damage
Repeated infections and blockages can cause ireversible lung damage
and death
Diabetes
In older patients
Due to deficient insulin production from pancreatic disease
Osteoporosis
Due to nutritional problems
Due to steroid use to control lung disease
Liver damage
Due to blocked ducts in the liver
Only 8% of patients get it
Treatment and
management
No cure
Lungs
Chest physiotherapy
Antibiotics
Inhalations via compressed air pump and nebuliser (aerosol
medications)
Regular exercise to maintain lung capacity
Digestion
Enzyme replacement capsules
Nutritious diet, supplementary vitamins
Sweat glands
Salt supplements and fluids
Prognosis Ultimately, lung transplant is often necessary as CF worsens
Life expectancy 38 years