Cystic fibrosis is a genetic disorder caused by a recessive gene that affects the movement of salt in the body. This causes thick, sticky mucus to build up in the lungs, pancreas and intestines. It is the most common life-threatening inherited disease. People with cystic fibrosis require daily physiotherapy and treatments to help manage symptoms and prolong their life expectancy, which averages around 31 years of age.

1. Unit 15 Clients with
disabilities
Cystic Fibrosis

2. What is Cystic Fibrosis?
 Genetic Disorder
 Caused by a recessive gene
 Acquired at conception and present at birth
 Most common life-threatening inherited
disease
 Over two million people in the UK are carriers
- around 1 in 25 of the population.

3. Cause
 Recessive gene on chromosome 7 that
controls the movement of salt in the body.
 This causes a lack of water in secretions
which then become very sticky and thick.

4. Cystic Fibrosis – a genetic disease
In cystic fibrosis the normal allele is dominant, so we call
it F, and the cystic fibrosis allele is recessive, so we call it
f:
FF Ff ff
Unaffected Carrier CF suffer
person

5. Inheritance
Example – Two carrier parents:
Parents: X X
Gametes:
Offspring:

6. Inheritance
Example - One carrier & One non sufferer
Parents: X X
Gametes:
Offspring:

7. Risk
 Males and females are at equal risk
 Sufferers are often infertile so the likelihood
of a sufferer having children is rare, but if
they did :
 With a non sufferer their off spring will all be
carriers
 With a carrier 50 % would be sufferers and 50%
would be carriers

8. Statistics
 8,000 people in UK suffer from CF
 1 in 25 are carriers
 3 people die each week
 5 babies born a week
 Life expectancy is around 31

9. Physical effects
 Thick mucus affects lungs, pancreas and
intestines
 Pancreas does not produce enough enzymes
 Deterioration of respiratory system
 Frequent illness
 Lack of energy

10. Psychological effects
 School anxiety
 Embarrassment
 Distress caused by daily physiotherapy

11. Progression
CF does not change with age but the effects may
become more severe
 Deterioration in respiratory system
 Clubbing of fingers and toes
 Pneumonia & chest infections
 Nasal polyps
 Collapsed Lung
 Bowel obstruction
 Diabetes
 Difficulty gaining weight
 Sterility (males)
 Difficulty conceiving (females)

12. Treatments / Support
 Daily chest physiotherapy
 Daily exercise
 Diet rich in protein and high in calories
 Enzyme supplements.
 Vitamin and Mineral supplements.
 Antibiotics
 Steroids
 Lung transplant

13. Prevention/Tests
 Prenatal testing
 Chorionic Villus Sampling (CVS)
 Amniocentesis
 Neonatal testing
 Sweat tests
 Lung X rays