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Cystic Fibrosis
Cystic fibrosis is a hereditary illness that affects the mucus glands of the pancreas, lungs, intestines and liver. Lung infections are common because of the excess mucus production. Persons with cystic fibrosis can be diagnosed in utero by undergoing genetic testing. A sweat test can decide if a child has the disease or is just a carrier.
There is no specific cure for cystic fibrosis and most sufferers die in their youth; usually in their 20s or 30s. New treatments have extended the lifespan to as high as 40 or fifty years. One of the treatments of cystic fibrosis is to have the patient undergo a lung transplant.
The disease of cystic fibrosis is one of the more common, childhood inherited diseases. In fact it affects one in 3900 children and is more common among those from the Western European countries and among Ashkenazi Jews. Among those of Mediterranean descent, one in 22 children are carriers of the disease. Ireland, the rate of carrier status is even higher at 1 in 19.
Cystic fibrosis is a genetic disease caused by a mutation in the CFTR gene. The product of the gene is the chloride ion channel, vital in creating sweat, digestive enzymes and mucus. Cystic fibrosis is an autosomal recessive gene in which neither CFTR gene functions properly.
Diseases from CF
Cystic fibrosis causes lung disease due to clogging of the bronchial airways because of buildup of mucus and inflammation of the airways. The inflammation and infection damage the lungs and lead to a chronic cough, excessive phlegm production and poor exercise ability. This is often worse when bacteria cause pneumonia to occur in the lungs. As time goes on, the lung architecture changes and make the whole thing worse.
Other disease symptoms involve the coughing up of blood, alterations in the bronchial airways, high blood pressure in the lungs, failure of the heart, low oxygen levels in the body, failure of respiration, chronic bacterial infections and mucus in the nasal sinuses. Polyps can form in the nasal passages and lead to blockages of the passages.
Diseases of the liver, gastrointestinal tract and pancreas
One of the most common GI symptoms is a failure to pass meconium stools, which occurs in about 10 percent of babies born with cystic fibrosis. There can be rectal prolapse, a higher fecal amount, malnutrition and increased pressure in the abdomen. The same mucus that is too thick in the lungs becomes too thick in the pancreas as well and the breakdown of food is impaired. When the pancreatic mucus fails to function properly, there is malnutrition. Individuals with cystic fibrosis can, in their later years, develop obstruction of the intestines. Bile also blocks the bile ducts due to excessive thickness and liver damage is probable. Cirrhosis of the liver is likely and blood clotting proteins don’t get made. The pancreas is responsible for the regulation of blood sugar and damage to the pancreas can result in poor pancreas function and diabetes mellitus. Finally, poor uptake of Vitamin D due to malnutrition can result in osteoporosis. Sufferers have poor growth and are shorter and lighter of weight than their counterparts. Sterility is common and occurs in 97 percent of men with cystic fibrosis. Women suffer from infertility as well.
Treatment
Nebulizer treatment with medications that open the airways is a common treatment for cystic fibrosis. Prevention and management of airway infections is also a common treatment. Management of GI side effects is necessary and management of liver disease. The main targets for therapy are the GI tract, reproductive organs and the lungs. Gene therapy is available to handle some of the issues of cystic fibrosis and organ transplantation is necessary in severe cases. The trick is to improve the quality of life and to prolong life if possible.
Most cystic fibrosis patients are continuously on one or more antibiotics, even when healthy, to keep infection away. Many of the bacteria become resistant to even the strongest antibiotics. Inhaled therapy with an antibiotic called aztreonam can keep bacteria from growing.
One method of treatment is to use the antioxidant glutathione, which is diminished in many forms of lung disease. The dose is given by means of bronchioalveolar lavage.
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