Cystic fibrosis

What is cystic fibrosis?

  • Cystic fibrosis (CF) is a genetic condition affecting more than 10,400 people in the UK.


  • You are born with CF and cannot catch it later in life, but one in 25 of us carries the faulty gene that causes it, usually without knowing.

How is it inherited?

Here you can see that the father has one copy of the faulty gene (yellow) and the mother similarly. Depending on how the genes are distributed there is a 1:4 chance of having a child affected with cystic fibrosis (all yellow), 1:4 chance of having a child without cystic fibrosis (all grey) and a 2:4 i.e. 50% chance, the child will not have cystic fibrosis but be a carrier (grey + yellow, like their parents).

What lung problems occur as a result of cystic fibrosis?

  • The build-up of mucus in the lungs causes chronic infections, meaning that people with cystic fibrosis struggle with reduced lung function and have to spend hours doing physiotherapy and taking nebulised treatments each day.


  • Exacerbations (a sudden worsening of health, often owing to infection) can lead to frequent hospitalisation for weeks at a time, interfering with work and home life.

How does CF affect the lungs?

4 new things to learn about Pseudomonas

What other parts of the body can be affected by cystic fibrosis?

  • Cystic fibrosis can cause the pancreas to become blocked with mucus, and when this happens enzymes required for digesting food cannot reach the stomach.


  • People with CF often need to take more than 50 tablets a day to help digest food and keep respiratory symptoms in check at a time, interfering with work and home life.


Cystic fibrosis and the pancreas

Cystic fibrosis and the liver

Treatments

Key treatments and a bit of history

Gene mutation treatments

  • A nice explanation of how they work e.g. Ivacaftor (Kalydeco), Lumacaftor/ivacaftor (Orkambi)

Research

  • Update Oct 2017 from UK CF conference

Useful cystic fibrosis links