by Sara Jowsey

Created on: May 09, 2008   Last Updated: May 12, 2008

What is cystic fibrosis?

Cystic fibrosis is a genetic disorder where mucus in the body becomes thick and sticky. The lungs and pancreas are particularly affected by this mucus buildup, which can result in serious breathing problems and lung disease. There is no cure for cystic fibrosis, though research and new treatments are developing to help increase the life span of those with the disease.

Causes Of Cystic Fibrosis

Cystic fibrosis is a genetic disease caused by a gene passed to a child by both parents. A child contracts this disease when they inherit a cystic fibrosis transmembrane gene that codes for the protein cystic fibrosis transmembrane regulator, or CFTR. This protein creates issues with the way water and salt move in and out of cells that produce mucus. Inheriting only one CFTR gene from parents will not cause cystic fibrosis in a child; it may, however, make them a carrier for the disease, which they could pass on to their own offspring.

Cystic Fibrosis Testing

There are three main forms of cystic fibrosis testing. The first method is a genetic carrier test which identifies carriers who can pass the CFTR gene on to offspring. The second method is through newborn screening. Newborn screening is recommended by the Cystic Fibrosis Foundation so that newborns can benefit from early diagnosis and treatment. The third method of cystic fibrosis testing is a sweat test. A sweat test measures the concentration of salt in a person's sweat and is the best way to detect cystic fibrosis. High salt levels are indicators of the disease.

Symptoms Of Cystic Fibrosis

The symptoms of cystic fibrosis are usually seen early in a child's life and can include: very salty sweat or skin; breathing problems, lung infections, or a cough that won't go away, along with wheezing; a blocked small intestine at birth; diarrhea; not growing or gaining weight properly; polyps in the nose or sinuses; and having part of the rectum protrude from the anus.

Cystic Fibrosis Treatment

There is no cure for cystic fibrosis. The life span of those with cystic fibrosis is typically in mid-to-late thirties, but new treatment options are making it possible for some to live to their forties and longer. Goals of cystic fibrosis treatment include having adequate nutrient consumption, an increase of airflow in the lungs, a decrease in the amount and thickness of mucus in the lungs, and preventing/treating infections in the lungs.

Non-drug related cystic fibrosis treatments include nutrition and exercise programs, chest physiotherapy, and chest vests. Exercising can expand the lungs and increase the amount of air the lungs can hold, helping to loosen mucus and have it removed more easily. A chest vest is a vibrating vest that helps dislodge mucus. Another option of cystic fibrosis treatment is using an oxygen machine or getting a lung transplant, though a transplant will not cure cystic fibrosis.

There are also drug treatment options for cystic fibrosis, such as taking digestive enzymes or using a bronchodilator to help maintain steady airflow and cut down some breathing difficulties. Mucus-thinning drugs or antibiotics may also be used to treat cystic fibrosis.

Cystic Fibrosis Foundation

The Cystic Fibrosis Foundation is a non-profit organization funding over 115 centers that offer support, information, and resources to individuals and families affected by cystic fibrosis. It is researching ways to develop a cure and help control cystic fibrosis, as well as improve the quality of life of patients with the disease. Fund-raisers are held to raise money to conduct this cystic fibrosis research and support the foundation. Investors also help to fund developments in drug discovery.

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