Cystic fibrosis: An overview

What is cystic fibrosis?

Cystic fibrosis (CF) is a potentially devastating illness affecting about 30,000 people in the United States. In this disease the body has difficulty regulating the amount of liquid in the secretions of certain organs, typically the lungs and organs involved with digestion. This in turn leads to abnormally thick secretions and problems with these organs functioning properly.

Cystic fibrosis symptoms

95% of patients with cystic fibrosis develop symptoms before age eighteen; most are diagnosed by the time they are two years old. One of the earliest symptoms of cystic fibrosis in newborns is a blockage of the intestines known as meconium ileus, with resultant abdominal distention, inability to pass stool, and sometimes vomiting. As the child develops, other symptoms may include chronic sinusitis, cough, recurrent infections of the lungs, intestinal obstruction, abdominal pain, gallbladder disease, diarrhea, poor growth, infertility, and diabetes. Even with modern treatment available, about 60% of people with this illness die before age eighteen, usually as a result of lung infection or respiratory failure.

Causes of cystic fibrosis

Cystic fibrosis is an inherited disorder caused by a defective gene. Both parents must be carriers of the gene for one of their children to develop cystic fibrosis; however, carriers usually do not have symptoms of the disease and are unaware of their potential to pass the gene along. It is estimated that over 10 million Americans are carriers, with an increased prevalence in Caucasian populations. The severity of the gene defect determines the severity of symptoms.

Cystic fibrosis testing

One way to test for this disease is to measure the amount of salt in the individual’s sweat. An elevated salt content is virtually diagnostic of the disorder. There is also a cystic fibrosis genetic test, which samples DNA from a person’s blood or from cells scraped from the inside of the cheek and determines whether the individual carries the gene for this illness.

Cystic fibrosis treatment

Breathing exercises and regular light thumping on the chest known as chest percussion helps clear the airways and prevent lung infections. Inhaled aerosolized saline solutions also help to preserve lung function. A number of different antibiotics are utilized for the recurrent lung infections. Sometimes asthma inhalers and steroids are also used. Replacement pancreatic enzymes are almost always taken by patients with this disease, as well as supplements of vitamin E and vitamin K, whose levels in the body can be depleted if the patient is experiencing diarrhea due to cystic fibrosis. Lung transplants have been performed in individuals with severe lung disease with a success rate of over 60%.

Cystic fibrosis research

The Cystic Fibrosis Foundation was founded in 1955 to help find a cure for this chronic disease, and a large percentage of its revenues are applied towards research. As cystic fibrosis is a genetic illness, much of the current research focuses on gene therapy. There is also research underway looking at medications that help thin secretions, replace missing enzymes, and reduce inflammation associated with the disease. Additionally, research is underway to improve the antibiotics used in this illness as well as the medications used to prevent rejection in transplant recipients.

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