Cystic Fibrosis

What is Cystic Fibrosis?

Cystic fibrosis is a genetic disorder that affects the lungs and digestive system. In order to inherit it, a child must receive a copy of the defective gene that causes it from both parents.

A life-threatening condition, cystic fibrosis leads to the development of a thick mucus buildup in the lungs and other organs. This can cause recurrent infections and damage to the lungs, which can trigger respiratory failure. When the disease affects the pancreas, it interferes with the release of digestive enzymes needed to break down and absorb food. Mucus buildup in the liver can cause liver disease when the bile duct becomes blocked.

Just because both parents have to be carriers, it does not mean the child is guaranteed to be afflicted with the condition. Actually, there is a 25% possibility of inheriting the disease. There is a 50/50 chance of the child being a carrier without acquiring cystic fibrosis, while the likelihood of no defective gene being present is also 25%. The majority of cases are diagnosed by the time a child is two years old, with the average life expectancy currently at around 40.

What are the Symptoms of Cystic Fibrosis?

As it is a complicated condition, cystic fibrosis presents differently for each person and with varying severity.

Symptoms include

  • Persistent coughing
  • Phlegm
  • Chronic bronchitis
  • Pneumonia
  • Shortness of breath
  • Wheezing
  • Poor weight gain
  • Malnutrition
  • Fatty stools
  • Difficult bowel movements
  • Salty-tasting skin
  • Male infertility

Cystic Fibrosis Causes

Cystic fibrosis is a serious, life-threatening disease that is caused by a defective gene. This gene causes mucus to build up in the respiratory tract, keeping the thick fluid in place and making it more difficult to breathe. The gene behind this disease also causes mucus to build up in the pancreas, making it more difficult for patients to absorb food. The mucus that builds up as CF progresses leads to digestive problems as well as serious lung infections. It can also affect the reproductive systems of men as well as the sweat glands.

Carrying the defective CF gene that causes this disease is common, but most people who have the gene do not develop the disease. Instead, patients get CF by inheriting the defective gene from both parents. When two defective genes are inherited, it activates this disease. With both defective genes, the patient’s body will have trouble with the movement of salt and water into and out of certain cells. Those cells then make mucus that is too sticky and too thick for organ health. With mucus that is so thick and sticky, the body can’t keep the organs as clean as it normally would.

How is Cystic Fibrosis Treated?

There is no cure for cystic fibrosis. However, there are treatments that can make it easier for patients to live with the condition.

Treatment includes

Most therapies involve similar elements, although some parts will need to be individualized for each specific case. Most people with the disease will need inhaled medications, antibiotics, and pancreatic enzyme supplements. Some will also find it beneficial to take multivitamins. Airway clearance techniques help patients clear away mucus buildup in the lungs, though they may require assistance from caretakers. A common method involves the use of an inflated vibrating vest.

Cystic Fibrosis Prevention

Because this is an inherited condition, there is no way to prevent it from developing in those who inherit the defective gene from both parents. Those who have a family history of CF should be screened as infants for the disease. For those who have a family history and want to become parents, they have up to a 90% chance of being a carrier of the defective CF gene. Some people who know they are carriers and/or have a family history of the disease choose to use a donor egg or sperm when starting a family in order to prevent this inherited condition.

Resources
Last Reviewed:
September 20, 2016
Last Updated:
December 12, 2017