Cystic fibrosis is a recessive genetic abnormality, which leads to complications that may put life to risks such as severe lungs, liver, intestine, pancreas, sinuses and sex organ problems. This inherited, life-threatening disorder adversely affects the cells that produce mucus, sweat and juices in the digestive system. The mucus becomes stickier and thicker, clogging up glandular secretions as well as airways then damages the pancreas and the lungs. There are about 30,000 people in the U.S. with cystic fibrosis as it is among the most common diseases of Caucasians. Previously, CF patients would not live over 20 years, but recent better checking methods and complications management have allowed patients to live until 50 years or more.
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The chronic disease cystic fibrosis has symptoms that vary in patients, which may improve or worsen over time, the most common of which are:
The inherited cystic fibrosis ailment is caused by the mutation of the Cystic Fibrosis gene, which encodes the protein called Cystic Fibrosis Transmembrane Regulator, on chromosome 7. The CFTR controls water and salt movement inside and outside of the body's cells, and its abnormality leads to salty sweat, sticky mucus and destruction of the cell's chloride channels. Cystic Fibrosis results to severe breathing problems and permanent lung damage while the sticky mucus blocks pancreas ducts causing non-absorption of proteins and fats since the digestive enzymes are not able to reach the small intestines. This leads to malnutrition and vitamin deficiency as well.
Bacteria can grow in the sticky and thick mucus that builds up in the airways, causing infections that may cause frequent coughing and spitting of bloody mucus. Cystic Fibrosis patients likely bout with pneumonia, as well as inflammation of nasal sinus and mucous membrane.
Cystic fibrosis may be diagnosed via blood tests, Immunoreactive Trypsinogen or IRT and sweat chloride, genetic, sputum and organ function testing.
Early treatment of cystic fibrosis improves lifespan and quality of life while other treatments can be as follows:
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