Cystic fibrosis
What is it?
Cystic Fibrosis - also called Mucoviscidosis - is a hereditary disorder, with a lot of variability in the severity of the disease among affected tissues and individuals. Cystic Fibrosis is an example of a disease where mutations occur in a single gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene is needed to produce mucus in the lungs, pancreas and other organs.
Symptoms
Difficulty in breathing and insufficient enzyme production in the pancreas is the most common symptoms of the disease. Frequent lung infections are the result of the production of thick mucus as well as a less competent immune system. Often, symptoms of cystic fibrosis appear in infancy and childhood, these include persistent diarrhoea, smelly and greasy stool, chronic coughing, poor growth and recurrent lung infections.
Causes
Cystic fibrosis itself is caused by one of 900 different mutations all over the CFTR gene. About 18% of all identified mutations in the CFTR gene are mutations of splice sites leading to a change in CFTR protein.
How is it treated?
Cystic fibrosis cannot be cured, just treated to ease the symptoms. Oral and intravenous antibiotics are used to treat lung infections. If lung failure occurs, a lung transplant might extend life. Digestive problems caused by the lack of pancreatic enzymes are solved by the enzyme supplements. Regular exercise and healthy diet are very important for people with cystic fibrosis.
How is it diagnosed?
It is important to diagnose the cystic fibrosis as soon as possible thus in some countries the newborn testing programme for cystic fibrosis is in place.
To diagnose the disease there are two kinds of tests available:
- sweat test – it is a simple test that measures the amount of the salt in the sweat (people with cystic fibrosis have saltier sweat than healthy people)
- DNA testing – checking for the faulty gene.
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