Cystic Fibrosis

Question 1

What is Cystic Fibrosis

Answer 1

-An inherited autosomal recessive disease (genetic)
The result of an gene mutation – single gene defect on chromosome 7

• Chromosome 7 is responsible for encoding the cystic fibrosis membrane conductance regulator, a transmembrane protein involved in ion transport called the Cystic Fibrosis Transmembrane Regulating (CFTR) protein
• This defect leads to a compromise in ion transport – it impairs transport of chloride ions, and also affects levels of sodium and water in the cell
• Affects several organs causing ducts to become obstructed with mucus → inflammation and replacement of damaged cells with connective tissue (Scaring)

Question 2

What does the CFTR protein do?

Answer 2

The CFTR protein is a channel protein
It controls the flow of water and chloride ions between membranes
When the structure is changed, passage of molecules and ions is blocked
This is the most common pathology of cystic fibrosis and there are more.

Question 3

What can the defect in the CFTR protein lead to?

Answer 3

1. Respiratory disease
2. High sodium sweat
3. Pancreatic insufficiency
4. Biliary disease
5. Infertility
6. Cirrhosis of the liver
7. Gastrointestinal Disease

Question 4

What is the pathology of CF?

Answer 4

1. Respiratory Disease
2. High sodium sweat
3. Pancreatic insufficiency
4. Gastrointestinal Disease
5. Biliary disease

All of these can be related to a lack of Na+, Cl- or water diffusion problem

Question 5

What are common symptoms of CF?

Answer 5

Persistent cough,
Coughing fits,
wheezing, shortness of breath, difficulties breathing (particularly after exercise).
recurring chest and lung infections