Cystic Fibrosis is a life-threatening genetic disorder. When it occurs it severely affects the lungs and digestive system because it prevents the protein that helps sodium chloride pass through cells, which then causes a very thick sticky mucus to be produced on the outside wall of the cell. This affects the lung cells the most due to their narrow passages and causes the mucus to clog the tiny air passages and trap bacteria. Cystic Fibrosis causes the host to have repeated infections and blockages, irreversible lung damage, severe breathing difficulty and bad circulation, all resulting in a shortened lifespan.
Cystic Fibrosis is found on the seventh chromosome and the mutation that leads to cystic fibrosis is called the Cystic Fibrosis Transmembrane Conductance Regulator or CFTR, which serves an important function in creating sweat, mucus and digestive juices. Cystic Fibrosis is an Autosomal Recessive genetic disorder and can only occur if the host inherits the faulty gene from both parents. The symptoms of Cystic Fibrosis can include; coughing or wheezing, numerous respiratory illnesses such as pneumonia or bronchitis, weight loss and salty-tasting skin.
A person can be tested for Cystic Fibrosis in three ways; the first is by a sweat test to measure the amount of sodium chloride in their sweat, this is because people with Cystic Fibrosis have between 2 and 5 times the normal amount of salt in their sweat; the second is testing a newborn where doctors can measure the amount of a protein called trypsinogen in the blood. The level of this protein is higher than normal in people with Cystic Fibrosis and Finally, genetic tests can identify a faulty CFTR gene using a sample of the patient's blood.
Approximately 3000 Australians have Cystic Fibrosis and one in every 2,500 birth produces a child with Cystic Fibrosis. The treatment today is very effective in suppressing the symptoms of Cystic Fibrosis and can give the patient an almost average life span, yet while it isn't curable yet.
