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Cystic Fibrosis

cystic fibrosis

Cystic fibrosis is a genetic disorder  which mainly affects the lungs and pancreas, but can involve other organs 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 secretionsIn people with cystic fibrosis, these cells do not function correctly and make mucus and secretions which are thicker than normal. Symptoms usually begin in early childhoodand include persistent cough, wheeze, repeated chest infections, malabsorption of food and general ill health.

When two people who carry the cystic fibrosis gene have a child, there is a:

1 in 4 chance that the child will have cystic fibrosis
2 in 4 chance that the child will not have cystic fibrosis, but will be a carrier
1 in 4 chance that the child will not have cystic fibrosis, and will not be a carrier

What are the symptoms of cystic fibrosis?

Cystic fibrosis symptoms usually first develop within the first year of life, sometimes in later childhood.

Lung symptoms
Persistent cough which typically produces a lot of sputum.
Wheezing.
Shortness of breath and breathing difficulties.
Recurring chest infections. These can be severe, such as pneumonia.
Repeated infections and inflammation can damage the lungs and lead to poor lung function.

Gut symptoms
The pancreas makes digestive juices which 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).
Malnutrition leading to poor growth and poor weight gain (even if you have a good appetite and eat a lot, as the problem is with digesting and absorbing the food).
Large, smelly, greasy, fatty faeces (stools or motions) occur in about a third of cases.
Bloated abdomen.
Constipation.

Symptoms sometimes occur at birth

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 symptoms and complications

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:
Repeated sinus infections.
Polyps forming in the nose.
Infertility (especially in males, as the tubes which carry the sperm can become blocked).
Damage to the liver, which may lead to cirrhosis, occurs in about 1 in 12 cases
Diabetes. This is rare in children but is more common in adults who have had cystic fibrosis.
Pancreatitis (inflammation of the pancreas).
Rectal prolapse.
Osteoporosis (thinning of the bones) may develop due to poor absorption of vitamin D which is needed to maintain healthy bones.
The sweat tastes very salty.

Mild cases

Some cases of cystic fibrosis are 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.

How is cystic fibrosis diagnosed?

Sweat test
A doctor may arrange a sweat test. This test measures the amount of salt (sodium and chloride) in skin sweat, which is abnormally high sin people with cystic fibrosis
Genetic test can confirm the diagnosis

Cystic fibrosis treatment
There are many aspects to the treatment of people with cystic fibrosis. An individual treatment plan is needed for each case to take into account individual circumstances.

TREATMENTS FOR LUNG PROBLEMS

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 is also important to encourage children to exercise and to be as active and fit as possible.

Courses of antibiotics are a mainstay of treatment. 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. They can also be given by a nebuliser.

Sometimes the lungs become infected with a fungus and antifungal medication is required.
Inhalers and nebulisersto open up the airways to break down the thick mucus.
People with advanced lung disease may benefit from oxygen, particularly overnight.
Ibuprofen and azithromycin - may also be recommended in some cases.

TREATMENTS FOR PANCREATIC PROBLEMS

Children with cystic fibrosis need a high fat and carbohydrate diet. A dietician will usually give detailed advice. vitamin supplements are needed, as many vitamins in food are not absorbed very well. Enzyme supplementsare needed to help to digest food.

OTHER TREATMENTS

A range of other problems which are related to cystic fibrosis may develop in some cases and require treatment. For example:
Salt depletion requiring salt supplements.
If diabetes develops, it usually requires insulin or tablet treatment.
Nasal polyps sometimes develop and can be treated with steroid nasal drops and sprays.
Constipation is quite common and may require regular laxatives.
All people with cystic fibrosis should be up to date with routine immunisations, and also have an annual flu jab to prevent influenza and a pneumococcal vaccine
Some children are tested for their immunity against varicella (chickenpox). If you do not have immunity to it then you may be offered the vaccine against chickenpox.
Lung or heart/lung transplantation may be offered in some cases as the lung disease becomes more severe.
Newer treatments are being researched and developed, may become more widely used in the future.

Gene therapy.
Medicines which may correct the abnormal salt and water regulation of cells that leads to thickened mucus and secretions being made in the lungs and other organs.
New methods to improve the action of the current treatments are being developed.

What is the outlook (prognosis)?

Cystic fibrosis is a lifelong condition. With improved treatment there has been a dramatic increase in thesurvival .With optimal care and treatment, 80% children with cystic fibrosis should live into their mid 40s or 50s.However, there will be times when symptoms are more severe - recurring chest infections, and pneumonia can have 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, and heart failure.

Genetic counseling

People with a family history of cystic fibrosis may wish to have genetic counseling and testing to find out their risk of passing the condition on to their children. A simple test can be done to look at the genes from cells from the inside of the cheek or from blood. The test can detect the cystic fibrosis gene which can show if you are a carrier of the abnormal gene


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