Cystic fibrosis is an inherited disease. it affects mainly the lungs and pancreas but other parts of the body such as the liver, nose, sinuses, sweat gland and reproductive organs may also be affected. Mucus, as well as other watery juices and secretions are usually made by cells in these parts of the body. however, these cells do not work correctly in those who have cystic fibrosis and they create mucus and secretions that are thicker than in a healthy person.
CausesIf someone has cystic fibrosis it means that a certain pair of genes do not work correctly. The genes are known as on chromosome 7 and they help control how cells handle sodium and chloride ions, also known as salt. there are lots of different abnormalities of the cystic fibrosis gene, however they all basically prevent the cell from being bale to handle sodium and chloride correctly.
As a result of this, there is a fault in how sodium and chloride travel in and out of the cells of affected organs. too much sodium travels into the cells of affected organs basically. Water follows the sodium and this causes there to be too little water outside of the cells. The mucus or watery secretions outside of the cells becomes too thick due to the lack of water.
Cystic fibrosis is known as an autosomal recessive disorder which means that in order to develop it, a baby will need to inherit two cystic fibrosis genes. One will be from the mother and one from the father. Inheriting only one cystic fibrosis gene makes the child a carrier. Carriers do not have cystic fibrosis because they have one normal gene which is able to control how salt transports in their cells. however, they can pass the cystic fibrosis gene onto their children.
If two people that carry the cystic fibrosis gene have a child there is a 1in 4 chance that their child will also develop cystic fibrosis. there is a 2 in 4 chance that the child wont have cystic fibrosis but he or she will be a carrier (if he or she inherits the cystic fibrosis gene from one parent and a normal gene from the other parent). there is a 1 in 4 chance that the baby will not have cystic fibrosis and also not be a carrier (by inheriting the normal gene from both of its parents).
SymptomsNormally symptoms develop within the first year of being born but in some cases may not appear until later on in childhood. how severe the symptoms are can vary.
LungsThe cells which line the lungs’ airways create mucus which is thicker than usual and can not be cleared easily from the lungs. Bacteria can trapped in the small airways and lead to infection and inflammation. Symptoms include:
A relentless cough that normally produced a lot of mucus.Wheezing.being short of breath and having trouble breathing.Having recurring chest infections which can be serious, e.g. pneumonia. Repeated infections and inflammation may damage the lungs and cause poor lung function.
GutNormally the pancreas makes digestive juices that contain chemicals (enzymes) which flow from the pancreatic duct into the duodenum and digest food.
In people who have cystic fibrosis however, the usual flow of digestive juices is blocked by thickened secretions and this can cause food to not be digested or absorbed correctly. This can cause the following:
Malnutrition which can lead to poor growth and weight gain.Bloated abdomen.Constipation (trouble passing faeces).
Around 1 in 10 children with cystic fibrosis are diagnosed shortly after they are born. a condition called meconium ileus can cause the baby’s gut to be blocked with meconium. This is a thick, dark and sticky substance that is created by the baby’s gut before he or she is born. Emergency surgery might be needed in order to remove the blockage,
Other organs of the body can be affected causing various other problems. The pancreas and airways can become severely affected. Other problems that can occur include:
Repeated infections of the sinuses.Polyps in the nose.being infertile.Liver damage can lead to cirrhosis in around 1 in 12 cases.Diabetes.Rectal prolapsePancreatitis.Poor absorption of certain foods can cause osteoporosis (thinning of bones).
TreatmentFor people with cystic fibrosis, there are many aspects to their treatment. it involves contribution, advice and expertise of many professionals like child health doctors, specialist nurses, physiotherapists, dieticians, psychologist and counsellors. Regular checks and tests are carried out to monitor the condition and keep a check on how the child is growing, developing and its general well-being.
Treatments for Lung ProblemsRegular chest physiotherapy is important as it helps to clear the airways of the mucus. a physiotherapist will be able to show parents how they can do this for their children. it should be carried out twice a day may need to be done more during chest infections.
Many children who have cystic fibrosis take regular long-term antibiotics. When a chest infection develops the dosage is increased and/or other antibiotics are prescribed.
Inhalers can be used to open up the airways. This is a similar treatment to that used for treating asthma.In some cases a drug called Dornase alfa can be given by nebuliser. This drug helps to break down the mucus and make it thinner. This makes it a lot easier to cough up and clear from the airways. it can also reduce the number of lung infections and improve the lung function.
Those who have advanced lung disease can benefit from oxygen.
Treatments for Pancreatic ProblemsIn people with cystic fibrosis the enzymes which are needed to digest food are greatly reduced. Therefore children with this disease need a diet that is high in fat and carbohydrates. a dietician will be able to give advice. High energy food and drink supplements can also be used. as many vitamins in food are not absorbed properly, vitamins are also needed.
Enzyme supplements are needed to help digest food in most cases. these enzymes replace those that usually come from the pancreas and need to be taken every time food is eaten.