I am breathing ... I am breathing ... This simple action is the second property for most people. But for those affected by cystic fibrosis this behavior is a continuous struggle and each time you breathe you can feel the desire to remove a large amount of bricks from your chest I will. Cystic fibrosis is the most common inherited disorder in the Caucasian population. The disease begins in early childhood, afflicts more than 25,000 Americans every year and kills more than 500 people each year. Cystic fibrosis is a fatal inherited genetic disorder caused by a change in ion channel selectivity, in particular a mutation in the CFTR gene causing a change in the chloride channel.
Cystic fibrosis is an autosomal recessive disorder - that is, two defective genes (one for each parent) are needed to develop the disease. The gene thought to cause cystic fibrosis is called cystic fibrosis transmembrane conductance regulator or CFTR. This gene is on chromosome 7. The severity and extent of this disease vary widely among patients with cystic fibrosis. Typically, this condition results in an increase in the chloride transport defect and trauma across epithelial cells and the viscosity of body secretions, particularly secretions from the respiratory tract (ie, the lungs, throat) and pancreas. As a result, patients are prone to pancreatic dysfunction and repeated chest infections
Cystic fibrosis affects cells that produce mucus, sweat, digestive fluids. These secreted fluids are usually very thin and slippery. However, in people with cystic fibrosis, defective genes cause thickening of secretions. Instead of acting as a lubricant, secretions block tubes, ducts and ducts, especially in the lungs and pancreas. Cystic fibrosis requires routine care, but people with this disease can usually work at school and work, and in the past few decades more people with cystic fibrosis The quality of life is good. Improvements in screening and therapy mean that people on cystic fibrosis now live on average about 30 years of age, and that some people live in their 40s and 50s.