Cystic Fibrosis

Question 1

What is CF?

Answer 1

An inherited autosomal recessive disease (genetic)

Question 2

What causes CF?

Answer 2

A gene mutation - a single gene defect on chromosome 7

Question 3

What is chromosome 7 responsible for?

Answer 3

Encoding the cystic fibrosis membrane conductance regulator, a transmembrane involved in ion transport called the CFTR protein

Question 4

What does CFTR stand for?

Answer 4

Cystic Fibrosis Transmembrane Regulating

Question 5

What does the CFTR protein do?

Answer 5

It regulates ion and water levels inside and outside of a cell

Question 6

What does a defect in the CFTR protein cause?

Answer 6

A compromise in ion transport

Question 7

What specific ions are affected when the CFTR protein is defected?

Answer 7

Chloride ion transportation
Levels of water and sodium in the cell

Question 8

What organs can be affected when the CFTR protein is defected?

Answer 8

Any that rely on that specific protein for ion transportation

Question 9

When organs are affected, what structures can become blocked, and what are they blocked with?

Answer 9

Ducts can become blocked with mucus

Question 10

What does a build up of mucus in ducts cause?

Answer 10

Inflammation and replacement of damaged cells with connective tissue (scarring)

Question 11

What type of protein is the CFTR protein

Answer 11

A channel protein

Question 12

What does the CFTR protein control?

Answer 12

The flow of water and chloride ions between membranes

Question 13

What happens when the structure of the CFTR protein is changed?

Answer 13

Molecules and ions are blocked from crossing the membrane that the protein is sitting within

Question 14

What does the blockage of mucus in airways leave an individual more susceptible to?

Answer 14

Infection

Question 15

What 7 things can a defect in the CFTR gene result in?

Answer 15

• Respiratory disease
• High sodium sweat
• Pancreatic insufficiency
• Biliary disease
• Infertility
• Cirrhosis of the liver
• Gastrointestinal disease

Question 16

What causes respiratory diseases?

Answer 16

Abnormally concentrated fluid in the lungs
More viscous secretions in airways
Can’t clear mucus due to dehydrated airways
Predisposes patients to disease and infection
Also leads to lung scarring

Question 17

What causes high sodium sweat?

Answer 17

Chloride ions are not absorbed
Low blood salt recognition, so can’t recognise thirst, leading to dehydration

Question 18

What causes pancreatic insufficiency?

Answer 18

Abnormal ion transport leads to dehydration of pancreatic secretions, so less enzymes released, leading to stagnation in the pancreatic ducts
Can cause diabetes in later life

Question 19

What causes biliary disease?

Answer 19

Abnormal ion transport reduces the water movement in the lumen resulting in concentrated bile which can damage the walls of the lumen

Question 20

What causes infertility in men?

Answer 20

They often don’t have the vas deferens so sperm can’t be transported from the testes to the urethra

Question 21

What causes cirrhosis of the liver?

Answer 21

Abnormality in ion transport leads

Question 22

What causes infertility in women?

Answer 22

They have thicker cervical mucus in the vagina/womb

Question 23

What causes gastrointestinal disease?

Answer 23

Intraluminal water deficiency due to dehydration causes problems with bowl movement (constipation)

Question 24

What is the prevalence of CF?

Answer 24

1 in every 25 Caucasians
Affects more than 10,400 people in the UK
1 in 2,500 babies born with CF
Claims 2 lives a week

Question 25

What are the 3 types of diagnosis of CF?

Answer 25

1) Genetic Testing 2) Heal Prick Test 3) Sweat test

Question 26

What is genetic testing?

Answer 26

A mouth wash or blood test determines whether an individual carries the faulty gene that causes CF

Question 27

When does genetic testing typically occur?

Answer 27

For people with a family history of CF, or those wishing to start a mainly and have a history somewhere of CF

Question 28

What is the heal prick test?

Answer 28

Carried out after birth to detect the presence of CF, means that, most children with CF are diagnosed shortly after birth

Question 29

Since what year has the heal prick test been used?

Answer 29

2007

Question 30

What is the sweat test?

Answer 30

The concentration of chloride ions in a baby’s sweat is measured by collecting a small amount of sweat from their arm or leg

Question 31

What would a positive sweat test show?

Answer 31

A higher concentration of chloride ions in the baby’s sweat

Question 32

When would a sweat test be carried out?

Answer 32

If a baby is suspected of having CF, it would be performed as a follow up to the screening process

Question 33

What are the main symptoms of CF at birth?

Answer 33

- serious bowel obstruction (meconium ileus) - jaundice

Question 34

What is meconium?

Answer 34

A thick, black substance blocking the bowels. Normally its cleared within a day or 2, CF babies struggle to clear it and can require surgery

Question 35

What is jaundice?

Answer 35

A build up of bilirubin in the blood and tissues, causing yellowing of he skin, eyes and mucus membrane

Question 36

What are common symptoms of CF associated with the LUNGS?

Answer 36

- persistent cough and coughing fits - inflammation (wheezing, SOB) - recurring chest and lung infections - cross infection - impaired diaphragm from an enlarged liver

Question 37

What is cross infection?

Answer 37

When infection from one CF patient is spread to another CF patient Therefore, it’s an isolating disease

Question 38

What are common symptoms of CF associated with the DIGESTIVE SYSTEM?

Answer 38

- not enough enzymes are released, so food can’t be broken down - large, smelly stools - malnutrition/poor weight gain/stunted growth (delayed puberty where appropriate)

Question 39

What are other symptoms of CF?

Answer 39

- diabetes - sinusitis - arthritis - OP - liver failure - urinary incontinence - muscle atrophy, kyphosis

Question 40

What are the 7 methods of treatment for CF patients?

Answer 40

- medication - dietary advice - education - exercise - Physiotherapy - lung transplants - psychological support

Question 41

What is CF prognosis?

Answer 41

There is no cure or prevention

Question 42

What is the most common cause of death in CF patients?

Answer 42

Lung complications and respiratory issues

Question 43

What does a CF patient’s QOL depend on?

Answer 43

The specific protein mutation and he environmental and developmental factors