Cystic Fibrosis (CF) is an inherited disease which affects vital organs in the body, especially the lungs and pancreas, by clogging them with thick, sticky mucus,.It is the Uks most common life – threatening inherited disease and affects more than 7,000 babies, children and young adults in the UK.

There is no known cure for CF at present but doctors and scientists throughout the world are confident that a cure will be found and are working as quickly as they can. We are now talking about ‘when’, rather than ‘if’.

Why is a baby born with Cystic Fibrosis?

Cystic Fibrosis is inherited. For a baby to be born with CF, both parents must be carriers of the faulty gene. But even then it is not certain that the baby will be born with CF.


Could I be a carrier ?

Yes, possibly. One in 25 of us is a carrier, usually without knowing it.


Are any tests available ?

Yes. The tests available are carrier testing, antenatal testing and neonatal testing.


Carrier testing

A simple mouthwash test can tell if you are a carrier. This is an important test if a relative has CF or is a known carrier. It is particularly important if your partner is a known carrier.


Antenatal testing

This test determines early on in a pregnancy whether a baby will have CF and is offered only to mothers recognised as being of high risk of having a child with CE


Neonatal testing

About a third of babies in the UK are tested for CF at birth using a heel-prick blood test. The CF Trust believes that all babies should be tested at birth so that treatment can begin immediately.


Is there a cure ?

Not yet but the discovery of a cure comes closer all the time. The faulty gene which causes CF has been identified and doctors and scientists are working hard to develop a technique for replacing or repairing it.


What can be done ?

Serious symptoms and complications of Cystic Fibrosis include infection, inflammation, malnutrition, diabetes, liver failure and osteoporosis. Until a cure can be found, it is obviously vital for CF patients to remain as healthy as possible. Inflammation and infection in the lungs can be treated by physiotherapy and drugs. Poor digestion is controlled with the help of specially developed enzymes and a special diet.

When the Cystic Fibrosis Trust was formed in 1964 most children with CF did not live beyond the age of ten. Today, because doctors and scientists, many funded by the CF Trust, are constantly working on ways to improve treatment, the average life expectancy is now around thirty.


The CF gene

We all inherit our genes from our parents.

Genes are made up of the chemical DNA and contain the instructions cells need to make body proteins.

The cells affected by CF are lining cells (also known as epithelial cells), particularly those lining the surfaces of the lungs and the digestive system.

The normal, or healthy, version of the CF gene makes a protein channel which is located in the membranes of epithelial cells where it acts like a valve or pump, channelling and regulating the passage of salts and water across the cells e.g. in the lungs or intestine or pancreas.

This CF protein is called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) and the correct name for the ‘CF gene’ is actually the ‘CFTR gene’.

The CF gene only causes the disease CF when it is faulty (or mutated). When the gene is faulty, the instructions to make the CF protein are also faulty. This means that the protein does not work properly and the passage of salts and water across epithelial cells is abnormal.

Most importantly the amount of water pumped across cell membranes is significantly reduced. In turn this causes the secretions lining the cell surfaces, instead of being watery and free flowing, to be thick and sticky. In the lungs a build up of thick mucus attracts bacteria and causes chest infections.

A similar build up causes blockages in the both the pancreas and intestines. The faults in the CF gene can be of several different types and are called mutations. Different types of mutations cause the CF protein (CFTR) to malfunction in different ways.

The different mutations are described by codes e.g. DF508, G542X, G551D (these codes serve as map references representing both the position and nature of the particular faults in the CF protein). In different populations some mutations are much more common than others reflecting the populations origins, and ethnicity.

However, CF is predominantly found in the UK, Northern Europe and North America and a particular mutation, DF508, is found in more than 70% of the CF population.

Information Courtesy of:
CYSTIC FIBROSIS TRUST
11 London Road
Bromley
Kent BR1 1BY

Telephone: 020 8464 7211
Facsimile: 020 8313 0472

Email: enquiries@cftrust.org.uk

For Further information visit the website:
www.cftrust.org.uk

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