Cystic Fibrosis

Question 1

What is cystic fibrosis?

Answer 1

It is a genetic disease, where there is an inherited defect in cell chloride channels.

Question 2

What are the consequences of a defect in chloride channels within cells?

Answer 2

1. Production of excess sticky mucous
2. Any secretions are affected

Question 3

What organs are mainly affected by cystic fibrosis?

Answer 3

Lung and pancreas

Question 4

What vitamins are mainly deficient in individuals with cystic fibrosis and why?

Answer 4

Fat-dependant vitamins, because pancreatic secretions cannot function normally, therefore the body cannot emulsify fat or absorb it.

Question 5

What gene causes CF?

Answer 5

Cystic Fibrosis Transmembrane conductance regulator gene = CFTR

Question 6

What chromosome is the CFTR gene located on?

Answer 6

chromosome 7

Question 7

What is the most common mutation of the CFTR gene?

Answer 7

F508del mutation

Question 8

What type of inheritance do the genes that cause CF have?

Answer 8

Recessive genes (so both parents must carry the gene to pass it on)

Question 9

What is the ratio of children affected (CF) in a family that has 4 children where both parents are carriers?

Answer 9

1 in 4

Question 10

What are the 4 ways to screen for cystic fibrosis in order to make a diagnosis?

Answer 10

1. Prenatal screening (amniocentesis)
2. Perinatal testing (blood spot test shortly after birth)
3. Sweat test
4. CTFR gene testing

Question 11

what does the “sweat test” measure? What would you expect to see from an individual with CF?

Answer 11

The salt content of an individuals sweat.
An individual with CF will have greater salt content in sweat.

Question 12

Why does malnutrition occur in children/adolescents with CF?

Answer 12

Due to lack of fat absorption and inability of the pancreas to produce enzymes.

Question 13

What are the main symptoms of CF in childhood?

Answer 13

1. Troublesome cough
2. Repeated chest infections (staph aureus + Pseudomonas)
3. Prolonged diarrhoea
4. Poor weight gain

Question 14

what are the four main consequences of cystic fibrosis?

Answer 14

1. Liver dysfunction leading to cirrhosis
2. Prone to osteoporosis
3. Diabetes symptoms due to prolonged pancreas disease
4. Reduced fertility (mainly in males)

Question 15

Poor absorption of what vitamin, makes CF individuals more prone to osteoporosis?

Answer 15

Vitamin D

Question 16

what is the main component of CF treatment?

Answer 16

Physiotherapy

Question 17

What type of physiotherapy is used in children with CF and why?

Answer 17

Vibrational physiotherapy for 1 hour each day, to help move mucous along the lung passage ways (removing it from the lungs)

Question 18

Why is it especially important for health providers to avoid use of antibiotics in patients with CF as much as possible?

Answer 18

Because resistance to antibiotics is what commonly leads to respiratory failure from pneumonia

Question 19

What medication can be used to help symptoms of CF in the lungs?

Answer 19

1. Bronchodilators to open airways
2. Antibiotics to reduce chest infection frequency
3. Steroids to reduce airway inflammation

Question 20

what medication can be used to treat the digestive system in individuals with CF?

Answer 20

1. Pancreatic enzyme replacement
2. Nutritional supplements (high in carbohydrate)

Question 21

What is the function of CFTR modulators?

Answer 21

Medication that is able to change the way in which the chloride channels are regulated and therefore allow a more normal response to stimulation

Question 22

What is the survival rate of individuals who undergo heart-lung transplant?

Answer 22

• 55% survive up to 10 years
• longest survival 20 years