A chronic disease affecting different organs that include intestines, liver, pancreas and lungs are known as cystic fibrosis (CF). The salt of the body is disrupted that leaves very little water and salt on the outside of the cells. This results in thinning of mucus layer that keeps the lungs free of germs to become sticky and thick. This mucus causes clogging of the lungs and is even difficult to cough out which ultimately result in infections and damaged lungs. The digestion process also gets affected due to cystic fibrosis mucus and it also stops the natural enzymes that help in absorbing food.
The mutation in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) is responsible for causing cystic fibrosis. CFTR is responsible for creating digestive juices, sweat and mucus. When the protein does not work well it results in salty and very sticky sweat in those people who are suffering from cystic fibrosis.
Some of the common symptoms include –
CF is also connected with certain symptomatic conditions and diseases that include problems with gastrointestinal system like diabetes, poor growth, malabsorption, infertility, clubbing of toes and fingers and blockages.
Physical examination, family history and symptoms of patient are analyzed while diagnosing cystic fibrosis. Some patients can even be diagnosed with the help of newborn screening. The first standard test for diagnosing cystic fibrosis is sweat test. This test examines the quantity of salt present in the perspiration of a patient. Immunoreactive trysinogen test which is a type of blood test is required for diagnosing CF in children as they are unable to produce sufficient amount of sweat. The presence of cystic fibrosis genes are confirmed by performing genetic test.
Cystic fibrosis has no specific treatment. The quality of life can be improved by providing specialized medical care, proper nutrition and aggressive drug therapies and treatments. The treatment provided also depends upon the symptoms and severity of the disease due to specific gene mutation. Antibiotics can be taken for suppressing the development of infections.
The aim of cystic fibrosis treatment is to clear the mucus from the airways. Certain kinds of vibrations are used for loosening the mucus in the lungs in order to cough out this mucus. Certain medications like antibiotics, bronchodilators, mucus thinners and anti-inflammatories are used that helps in breathing and also for assisting in the expulsion of mucus. In order to block pancreatic enzymes from entering into the intestines, pancreatic enzyme supplements are used that are taken before the meals. These pancreatic enzyme supplements help in digesting the food properly and it also provides for proper nutrition. Double lung transplantation is also sometimes recommended when the function of the lung is very low.
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