Cystic Fibrosis

Question 1

Define Cystic Fibrosis

Answer 1

Cystic Fibrosis is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections

Question 2

What are the signs and symptoms of Cystic Fibrosis?

Answer 2

Recurring chest infections - Chronic bronchopulmonary infection
Wet sounding cough - Increase viscosity and stasis of epithelial mucus
Difficulty putting on weight - Exocrine pancreatic insufficiency
Occasional wheezing and shortness of breath - Increase viscosity and stasis of epithelial mucus and Chronic bronchopulmonary infection
Nail clubbing - Unknown
Diarrhoea and white stools - Exocrine pancreatic insufficiency
Salty sweat - Increased salt content in sweat

Question 3

What are the two causes of Cystic Fibrosis?

Answer 3

Autosomal Recessive Disease (ARD)

Cystic Fibrosis Transmembrane Conductance Regulator (CFTCR)

Question 4

Describe autosomal recessive disease (ARD)

Answer 4

Two copies of an abnormal gene must be present in order for the disease or trait to develop. Mutations occur in chromosome 7.

Question 5

Describe Cystic fibrosis transmembrane conductance regulator (CFTCR)

Answer 5

Mutations of the CFTR gene affecting chloride ion channel function lead to disregulation of epithelial fluid transport in the lung, pancreas and other organs, resulting incystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes.