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Cystic Fibrosis

Cystic fibrosis-genetic disease

People with cystic fibrosis experience a build-up of thick sticky mucus in the lungs, digestive system and other organs
Cystic fibrosis is a genetic disease marked by lung infections. A defective gene causes the build-up of mucus in the lungs, pancreas and other organs. The mucus causes extensive damage to the lungs and pancreas leading to respiratory and digestive failure. Usually the mucus is thin and slippery. But in people with a defective gene, the mucus is thick and sticky, which instead of acting as a lubricant chokes or plugs the air tubes and digestive gland ducts.

CAUSES

A defective gene causes the build-up of thick mucus in the lungs, pancreas and other organs. This gene actually affects a protein that regulates the movement of the salt through the cells. The result is increased presence of salt in the respiratory, digestive and reproductive systems. Children who have inherited this gene from both the parents are greatly susceptible to cystic fibrosis. Inheriting the gene from only one of the parents may not pose the risk of this disease.

SYMPTOMS

The signs and symptoms of cystic fibrosis depend on the severity of the disease. Children and adults with cystic fibrosis have high salt content in their sweat. Persistent cough, wheezing, breathlessness, exercise intolerance, repeated lung infections and inflamed nasal passages are also seen in those affected by cystic fibrosis.

RISKS AND COMPLICATIONS

Importantly, cystic fibrosis occurs in families with genetic issues. A major risk in men due to cystic fibrosis is that, it can affect their ability to have children. And, children with cystic fibrosis are more vulnerable to repeated lung infections marked by cough, wheezing and inflammation. Some of the complications of cystic fibrosis include chronic respiratory infection and failure, diabetes, infertility, pneumonia, clubbed fingers and heart failure.

TESTS AND DIAGNOSIS

The doctor studies the signs and symptoms of cystic fibrosis. To confirm the case for cystic fibrosis, the sweat test and genetic test may be recommended. The sweat test helps the doctor to test the salt content in the sweat. The genetic test helps to check specific defects of the gene which is responsible for cystic fibrosis.

TREATMENTS

Treatment for cystic fibrosis aims to ease the symptoms and reduce complications of the condition.

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