CYSTIC FIBROSIS.
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
