Cystic Fibrosis, also known as mucovoidosis, or mucoviscidosis, is an incurable, inherited genetic condition caused by two homozygous recessive alleles. In order for a child to inherit this disorder, both of its parents must either be a sufferer or carrier of the gene. The condition itself is caused by a faulty gene found on chromosome seven that controls the movement of salt and water through the cell membrane. ?
In cases of Cystic Fibrosis, too much salt and not enough water pass though into the cells and cause the body’s secretions to become thick and turn into thick abnormal mucus produced by the goblet cells. The mucus causes a clogging of the body’s internal organs and can have a multiple complications throughout causing severe and frequent infections. Currently, all across the world there are approximately 100,000 known cases of individuals living with Cystic Fibrosis.
According to utoronto.ca/kids/cystic the inheritance of cystic fibrosis occurs in 1 in 3500 white births, 1 in 14,000 black births, 1 in 25,000 Asian-American births and 1 in 11,500 Hispanic births, with those from white Caucasian backgrounds being at the highest risk of inheritance. The Cystic Fibrosis trust states that “9,000 of these individuals are from the UK alone and Cystic Fibrosis makes up that of one of the UK’s most life threatening inherited diseases” The disease results in the suffering of 8,500 children and adolescents and every week in the UK it is estimated that five babies are born with this life threating disease.
According to the National Institute for Clinical Health and Excellence “Approximately over two million people in the UK carry the faulty gene that causes Cystic Fibrosis – That works out at around one in twenty five of the population” Each week it is estimated that within the UK two young lives are lost to this incurable illness and only half of those living with the disease are likely to live past their 30s. Common complications of Cystic Fibrosis.
A common complication for people with cystic fibrosis is to have difficulties and complications with breathing and suffer symptoms such as excessive coughing and wheezing caused from the bodies attempt to clear the mucus. Pneumonia, bronchitis, recurring chest and lung infections may also be common amongst those with cystic fibrosis. Infections are often caused by the continual build-up of mucus in the lungs, providing an ideal breeding ground for bacteria.
Cystic fibrosis can also cause mucus to block the pancreatic ducts resulting in a lack of digestive enzyme secretion which results in food being insufficiently digested and can result in that of malnutrition and in some cases , diabetes. Both men and women with cystic fibrosis can have problems conceiving children. It is said that in virtually all men with cystic fibrosis, the tubes that carry sperm do not develop correctly, making them infertile. Whilst Women with cystic fibrosis may find that their periods becomes absent or irregular if they are underweight. There is also an increased thickness of cervical mucus, which may reduce fertility.
However, according to NHS choices “most women with cystic fibrosis can become pregnant without any difficulty. ” Secondary complications of Cystic Fibrosis can be that of arthritis and osteoporosis caused from repeated infections , poor growth or weight , little psychical activity and lack of vitamin intake due to digestive problems. According to NHS choices “People with Cystic Fibrosis are more at risk of developing Osteoporosis if they are taking steroids to help with lung infections “ In a few people with cystic fibrosis, the tiny bile ducts in the liver can become blocked by mucus.
According to the Cystic Fibrosis Trust “This only happens to approximately 8% of people who have CF, but it is a serious health risk and may necessitate a liver transplant” ? The Graph shows all Cystic Fibrosis patients within the UK in 2004 ? This one shows the number of those under the age of 16 diagnosed with Cystic Fibrosis ? The solution Unfortunately, there is no current cure for cystic fibrosis. However, there is a range of medication and therapies available to those with the condition. The aim of treatments and therapies is to ease the symptoms and make the condition easier to live with.
They can also prevent or reduce the long-term damage caused by infections and other complications Medication for the Lungs and breathing ? ? Bronchodilator drugs: These drugs are inhaled to help the person breathe more easily. They are used for asthma and relax the muscles that surround the airways in the lungs, helping them to open up. They relieve tightness and shortness of breath. ? Antibiotics: These are taken to fight any present infections within the lungs or to control a persistent ongoing infection.
They can be taken orally by mouth as pills or suspensions, be inhaled through a nebulizer or they may be given intravenously if the infection is more severe. ? Steroids: These reduce any swelling within the airways, which can help with breathing. The can also be given to help bring down any inflammation from damage within the lungs due to excessive coughing and wheezing. DNase is an enzyme, usually inhaled, which helps to thin and break down the sticky mucus in the lungs so it is easier to cough up and allow easier breathing. Other Medications?
Bisphosphonates: This is often given in cases of osteoporosis to help maintain bone density and reduce the risk of fractures ? According to the Cystic Fibrosis trust it is also recommended that those with cystic fibrosis should keep up to date with their vaccinations and flu jabs to reduce the risk of infection and further complication. ? http://www. cftrust. org. uk/aboutcf/publications/cfregistryreports/AnnualReport2004. pdf http://www. cftrust. org. uk/ http://www. utoronto. ca/kids/cystic. htm http://guidance. nice. org. uk/TA/Wave24/14.