Cystic Fibrosis

Question 1

What anatomical structures does CF affect?

Answer 1

• Airway epithelial cells
• Lungs
• Sweat Glands
• Pancreas
• Bowel

Question 2

Which gene mutation causes CF?

Answer 2

The CFTR gene

Question 3

What happens in the pancreas due to CF? And what does this lead to?

Answer 3

You lose your islets of langerhans cells. These are responsible for making insulin. This leads to CF related diabetes.

Question 4

What are the physiological abnormalities?

Answer 4

The ciliated airway epithelial cells have a mutated protein which leads to airway dehydration and abnormally vicious mucus production. This affects the entire body.

Question 5

What type of inheritance is CF?

Answer 5

Autosomal recessive

Question 6

What are the clinical signs and symptoms?

Answer 6

• Coughing
• Sputum production
• Pyrexia (raised body temperature)
• Shortness of Breath
• Chronic Lung Infection
• Repeated Chest Exasperations
• Abnormal bowel motions
• Salty Skin
• Poor growth and weight gain
• Poor GI Absorption of nutrients
• Haemoptysis (the coughing up of blood)
• Finger clubbing
• Cyanosis (a bluish discoloration of the skin due to poor circulation or inadequate oxygenation of the blood)

Question 7

What are the abnormal test results associated with CF?

Answer 7

Genetic screening
Sweat test
obstructive lung function
sputum cultures- positive for various bacteria
Abnormal pancreatic functions
Azoospermia (absence of motile, and hence viable, sperm in the semen)
Hypoxia (deficiency in the amount of oxygen reaching the tissues)
Pulmonary Hypertension

Question 8

What are the medical interventions for CF?

Answer 8

• Treatment of the infections best chronic and acute
• Physical therapy
• Lung transplant