goodtoknow says: There have been dramatic improvements in the treatment and understanding of cystic fibrosis. Today, many cystic fibrosis sufferers will live full, relatively normal lives. Cystic fibrosis is an inherited disease that mainly affects the lungs and pancreas, causing a build up of mucus. It's caused by a faulty gene and most cases are diagnosed shortly after birth. Researchers are currently trying to work out what goes wrong with the gene and how to fix it. As yet, there's no cure for cystic fibrosis but treatment including daily physiotherapy and breathing exercises can really help.
For a full medical explanation of the causes, symptoms and treatments of cystic fibrosis from patient.co.uk, read on.
Cystic fibrosis is a serious inherited disease which mainly affects the lungs and pancreas, but can involve other organs. Symptoms usually begin in early childhood and include persistent cough, wheeze, repeated chest infections, malabsorption of food, and general ill health. Treatments include antibiotics, physiotherapy, mucus thinning drugs, pancreatic enzyme replacements and other therapies.
Cystic fibrosis is a condition which mainly affects the lungs and pancreas, but can affect other parts of the body including the liver, nose and sinuses, reproductive organs and sweat glands.
Normally, cells in these parts of the body make mucus and other watery juices and secretions. In people with cystic fibrosis, these cells do not function correctly and make mucus and secretions which are thicker than normal. This can cause various symptoms and problems (which are described below.)
Cystic fibrosis is a genetic disorder. If you have cystic fibrosis, a particular pair of genes (on chromosome 7) do not work properly. This pair of genes help to control the way the cells handle sodium and chloride ions ('salt'). There are many different abnormalities (mutations) of the 'cystic fibrosis gene', but, basically, they all stop the cell from handling sodium and chloride properly.
As a result, cells in affected organs have a fault in the way sodium and chloride travel in and out of the cells. Basically, too much sodium travels into the cells. Water follows the sodium which leaves too little water outside the cells. This causes the mucus or watery secretions outside the cells to be too thick (for example, in the airways of the lungs).
About 1 in 2500 babies in the UK are born with cystic fibrosis. Cystic fibrosis is an autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inherit two cystic fibrosis genes, one from your mother and one from your father. If you inherit only one cystic fibrosis gene, you are called a carrier.
About 1 in 25 people in the UK of caucasian decent (white european) are carriers of the cystic fibrosis gene. It is much less common in Afro-Caribbean and Asian people. Carriers do not have the disease as they have one normal gene which can control the salt transport in their cells. But carriers can pass the cystic fibrosis gene on to their children.
When two people who carry the cystic fibrosis gene have a child, there is a:
Symptoms usually first develop within the first year of life, but may not appear until later childhood. The severity of symptoms can vary.
The lungs make thicker sputum (mucus) than normal. This can trap bacteria in the small airways and lead to infection. So, symptoms which typically develop include:
The pancreas normally makes digestive juices which contain chemicals (enzymes). The digestive juices normally flow out from the pancreatic duct into the duodenum and digest food.
In people with cystic fibrosis, thickened secretions block the normal flow of the digestive juices from the pancreas. This can result in food not being digested or absorbed properly, in particular, fatty foods and fat-soluble vitamins (vitamins A, D, E and K). This can cause:
In about 3 in 20 cases the pancreas functions well and there are no or minimal gut symptoms, and mainly just lung symptoms.
About 1 in 10 children with cystic fibrosis are diagnosed shortly after birth. This is due to a condition called meconium ileus where in some cases the gut becomes blocked with meconium - a thick, dark, sticky substance which is made by the baby's gut before being born. Urgent surgery may be needed to relieve the blockage.
Other organs may be affected which may cause various other problems in some cases. Also, the pancreas and airways may become severely affected. Therefore, other problems which may also occur in some cases include:
Ongoing poor nutrition combined with persistent lung symptoms and repeated chest infections often causes 'failure to thrive' in young children, delayed maturation and sexual development in teenagers, and general poor health at any age.
Recently, some cases of cystic fibrosis have been diagnosed in adults who have relatively mild symptoms. This may be due to some mutations of the cystic fibrosis gene not being as 'faulty' as others. The handling of sodium and chloride may only be mildly affected in these cases.
A doctor may arrange a sweat test if he or she suspects cystic fibrosis from the symptoms.
This test measures the amount of salt (sodium and chloride) in skin sweat. People with cystic fibrosis have an abnormally high salt level in sweat.
A genetic test can confirm the diagnosis. Some cells are scrapped from the inside of the cheek. These can be tested to detect the cystic fibrosis gene.
Some countries screen all newborn babies for cystic fibrosis. A small 'heel prick' blood test is taken about the sixth day after birth. This can detect a chemical called immunoreactive trypsin which is high in babies with cystic fibrosis. If it is high then a sweat test and genetic test can be done to confirm the diagnosis.
There are very good arguments to screen all babies as the earlier the diagnosis is made, the sooner treatment can begin which improves the outlook (prognosis). However, only a few places in the UK routinely screen newborn babies for cystic fibrosis. This may change in the future and screening may be introduced to include all areas in the UK.
There are many aspects to the treatment of people with cystic fibrosis. Treatment involves the input, advice, and expertise of various professionals such as child health doctors, specialist nurses, physiotherapists, dieticians, etc. It is usual to have regular checks and tests to monitor the condition and to keep a check on children's growth, development and well-being.
The following list is a brief overview of the commonly used treatments, but is not a full or exhaustive account of all the treatments used. An individual treatment plan is needed for each case to take into account individual circumstances.
Regular chest physiotherapy is very important. This helps to clear the airways of the thick mucus. A physiotherapist usually shows parents how to do this for their children. It involves a special way to firmly pat the chest whilst the child lies head-down to encourage mucus and sputum to be coughed out. Twice daily chest physiotherapy is common practice. This may need to be increased during times of chest infections. It is also important to encourage children to exercise and to be as active and fit as possible. So, sports and games are encouraged.
Courses of antibiotics are a mainstay of treatment. Many children with cystic fibrosis take regular long-term antibiotics. The dose is increased and/or other types of antibiotics are given when a chest infection develops. Various bacteria can cause infections and the antibiotics chosen depend on which bacteria are found in samples of sputum. Antibiotics given intravenously (into a vein) are often required for severe infections that are not controlled with antibiotic tablets.
A bacterium called pseudomonas aeruginosa commonly persists in the thick mucus in the airways. To keep this from flaring up into repeated infections, an antibiotic given by nebuliser (inhaled antibiotic) is a common treatment.
Sometimes the lungs become infected with a fungus and antifungal medication is required.
Inhalers to 'open up the airways' as much as possible may be used. This is similar to the treatment used for asthma.
This is a drug given by nebuliser in some cases. It helps to break down and to 'thin' the thick mucus making it easier to cough up and clear the mucus from in the airways. It may reduce the number of lung infections and help to improve lung function.
People with advanced lung disease may benefit from oxygen, particularly overnight.
The enzymes needed to digest food are greatly reduced in most people with cystic fibrosis. Therefore children with cystic fibrosis need a high fat and carbohydrate diet. A dietician will usually give detailed advice. High energy food and drink supplements may also be needed. In addition, vitamin supplements are needed as many vitamins in food are not absorbed very well.
In most cases, enzyme supplements are needed to help to digest food. (These replace the enzymes which normally come from the pancreas.) You need to take these supplements every time you eat food. This can mean taking many doses each day.
A range of other problems that are related to cystic fibrosis may develop in some cases and require treatment. For example:
Newer treatments are being researched and developed and if found successful may become more widely used in the future. For example:
Cystic fibrosis is a lifelong condition. With improved treatment there has been a dramatic increase in the survival of people with cystic fibrosis over the last 20 years or so. In the 1960's and before, most babies born with cystic fibrosis only survived for a few months or years. Today, many people with cystic fibrosis are living into their 30's and beyond. With optimal care and treatment, it is estimated that about 8 in 10 of today's children with cystic fibrosis should live into their mid 40's. With treatment, most people with cystic fibrosis can live reasonably normal and productive lives.
However, there will be times when symptoms are more severe, mainly when a chest infection develops. Even with treatment, the main risk is recurring chest infections, and pneumonia. This can have a recurring damaging effect on lung function which can get worse over time. Death in childhood or early adulthood is still not uncommon. Most people with cystic fibrosis die of lung complications, mainly respiratory failure.
People with a family history of cystic fibrosis may wish to have genetic counselling and testing to find out their risk of passing the condition on to their children. A simple test can be done to some cells which are scrapped from the inside of the cheek. The test can detect the cystic fibrosis gene which can show if you are a 'carrier' of the abnormal gene.
Cystic Fibrosis Trust 11 London Road, Bromley, Kent, BR1 1BY Tel: 020 8464 7211 Web:www.cftrust.org.uk
Provides information and support for people with cystic fibrosis and their carers.
© EMIS and PIP 2004 Updated: May 2004 Review Date: June 2005 CHIQ Accredited