Download Cystic Fibrosis

Chronic Respiratory Conditions Requiring Physiotherapy
Cystic Fibrosis
What is cystic fibrosis?
Cystic fibrosis (CF) is one of the UK's most common life-threatening inherited diseases. It is
caused by a single defective gene. As a result, the internal organs, especially the lungs and
usually the digestive system, become clogged with thick sticky mucus resulting in chronic
infections and inflammation in the lungs and difficulty digesting food.
Over many years, the lungs become increasingly blocked, inflamed, damaged and will become
increasingly scarred which will eventually lead to respiratory failure.
Most cases of cystic fibrosis in the UK are now identified through screening tests carried out
soon after birth. It's estimated that around 9,000 people in the UK have cystic fibrosis and 1 in
every 2,500 babies born in the UK has CF.
A number of treatments are available to help reduce the problems caused by the condition, but
unfortunately average life expectancy is reduced for people who have it.
The outlook for cystic fibrosis has improved considerably in recent years because
of advancements in treatment, although most people with cystic fibrosis will have a shorterthan-average life expectancy.
Currently, about half of the people with cystic fibrosis will live past the age of 40. Children born
with the condition nowadays are likely to live longer than this.
Symptoms of cystic fibrosis
Symptoms of cystic fibrosis tend to start in early childhood, although they can sometimes
develop very soon after birth, or may not be obvious until adulthood.
In people with cystic fibrosis the lungs make thicker sputum (mucus) than normal, which can
trap bacteria in the small airways and lead to infection. Symptoms that typically develop
include persistent cough, wheezing, shortness of breath and breathing difficulties and repeated
chest infections.
In most people with CF (but not all), thickened mucus secretions block the ducts in the
pancreas, reducing the amount of insulin produced and stopping digestive enzymes reaching
the intestines. This means food cannot be digested or absorbed properly, in particular fatty
foods and fat-soluble vitamins (vitamins A, D, E and K). This leads malnutrition leading to poor
growth, poor weight gain, bloated abdomen and tummy aches, constipation and prolonged
diarrhoea, physical weakness and delayed puberty.
Other symptoms can include sinus infections, and nasal polyps, diabetes, arthritis, osteoporosis
and liver disease.
Fertility can also be effected, particularly in men whose vas deferens is either blocked or
absent. Their sperm and sexual function remains normal, and men are able to have children
with clinical assistance.
Causes of cystic fibrosis
Cystic fibrosis is caused by a faulty gene (mutation) that a child inherits from both of their
parents. Nearly 2000 CF causing mutations have been described, but are commonly grouped
into 5 “classes” illustrated below.
These mutations are found on chromosome 7 and consist of replacements, duplications,
deletions or shortenings of the CFTR (cystic fibrosis transmembrane conductance regulator)
protein, an ion channel protein which would normally transport chloride through the cell
membrane. Chloride is a component of sodium chloride; a common salt found in sweat.
This faulty CFTR protein leads to the disregulation of salt and water transport. In the lungs in
particular, the build-up of chloride ions inside the epithelial cell pull in both sodium ions and
water via osmosis and diffusion into the cell from the airway surface liquid & mucus gel layer
outside the cell adversely effecting mucociliary transport, causing repeat lung infections etc.
To be born with cystic fibrosis, a child has to inherit two of these faulty genes – one from each
of their parents. Their parents will not usually have the condition themselves, because they will
only carry one faulty gene and one that works normally.
If both parents carry the faulty gene, there's a 25% chance that each child they have will be
born with cystic fibrosis.
Screening and testing for cystic fibrosis
Most cases of cystic fibrosis are now detected soon after birth through the newborn blood spot
test. This involves collecting a drop of blood from the baby's heel and testing it
for abnormalities that could indicate cystic fibrosis.
More tests will be needed to confirm the diagnosis, such as:
 a sweat test – to measure the amount of salt in sweat, as the sweat of someone with
cystic fibrosis has higher levels of salt than normal
 a genetic test – where a sample of blood or saliva is checked for the faulty gene that
causes cystic fibrosis
These tests can also be carried out in older children and adults with symptoms of cystic fibrosis
who haven't been screened previously.
If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of
having a child with the condition by checking if you're a "carrier" of the faulty gene that causes
it.
There are other tests which you can learn more about on
https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/diagnosis
Treatments for cystic fibrosis
There's currently no cure for cystic fibrosis, but a number of treatments are available to help
control the symptoms, prevent complications, and make the condition easier to live with.
Cystic fibrosis affects everyone differently, but for many it involves a rigorous daily treatment
regime including physiotherapy, exercise, oral, nebulised and occasionally intravenous
antibiotics, and taking enzyme tablets with food. Some people with cystic fibrosis will have a
feeding tube overnight.
For those who are very ill with cystic fibrosis and with very poor lung function, daily life can be a
struggle as basic tasks can leave them breathless. Some patients use a wheelchair to get
around, and use oxygen to help them breathe. However, this is rare in paediatrics.
You will learn more about these treatments during the respiratory afternoon.
For further reading please go to https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis
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Bronchiectasis
Please have a look at
https://www.blf.org.uk/support-for-you/bronchiectasis
or
http://www.nhs.uk/Conditions/Bronchiectasis/Pages/Introduction.aspx
To find about what Bronchiectasis is, how it is caused and how it can effect patient’s lungs,
health and lives
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Primary Ciliary Diskinesia (PCD)
Please read
http://www.pcdfoundation.org/en/about-pcd/faqs
To find about what PCD is and how it can effect patient’s lungs, health and lives.