Cystic Fibrosis

What is Cystic Fibrosis?

Cystic Fibrosis Disease (CF) is an inherited disease that affects the mucus and sweat glands as well as the production of saliva and digestive juices. Abnormal mucus can block passageways in the body instead of providing lubrication. This can lead to serious health complications, especially in the pancreas and lungs.

Causes of Cystic Fibrosis

Cystic fibrosis is caused by a recessive gene that is passed on to a child through the parents. In order for recessive genes to be expressed, a child must inherit one copy of the gene from each parent. This means that any person with one copy of the cystic fibrosis gene is considered a carrier and may pass the gene on to their children without having any of the symptoms themselves.

The cystic fibrosis gene alters the protein that regulates the movement of salt and water through cells. This means that thicker and stickier mucus is produced in the linings of the respiratory, digestive, and reproductive systems. Most commonly, this can obstruct airways, which can lead to breathing difficulties as well as bacterial infections in the lungs. This may lead to permanent damage such as scarring (fibrosis) and the development of cysts.

In the digestive tract, the abnormal mucus can block the ducts of the pancreas, preventing enzymes from reaching the intestines. This can lead to nutrients leaving the body unused, causing malnourishment. Blood sugar levels regulated by the pancreas may become abnormal, resulting in cystic fibrosis-related diabetes. Increased salt levels in sweat can upset the balance of minerals in the blood as the salt leaves the body. In some cases, infertility can result (usually in men) by obstruction of the tubes that carry sperm in the reproductive system.

Cystic Fibrosis Symptoms

The symptoms of cystic fibrosis vary and are influenced by factors such as the severity of the disease as well as an individual’s age. Children with Cystic Fibrosis may experience the following symptoms:

A blockage of the intestines preventing stool from passing through in newborns (meconium ileus)
Poor Growth
Weight Loss
Diarrhea or greasy and bulky stool
Malnutrition
Intestinal gas, swollen belly, pain or discomfort
Frequent chest and sinus infections such as pneumonia or bronchitis
Coughing or wheezing
Salty taste to sweat

Diagnosis

The most common cystic fibrosis testing method is the sweat test. This procedure detects levels of sodium chloride by applying a small amount of a sweat-producing chemical to the arm or leg. An electrode is attached to the area to stimulate a painless electric current causing a warm sensation. A sample of sweat is then collected and sent to a laboratory for analysis to detect consistently high levels of salt.

The sweat test does not detect the severity of cystic fibrosis for each case, and may not be useful on infants who do not produce a substantial amount of sweat. Other tests are available for diagnosis including a genetic analysis of a blood sample as well as tests that determine how well the lungs, pancreas, and liver function. Cystic fibrosis carrier tests are also available to parents and other family members for screenings prior to pregnancy.

Cystic Fibrosis Treatment

There is a range of treatment available for cystic fibrosis symptoms depending on the complications of each case. Antibiotics are available to help prevent respiratory infections and inhaled bronchodilators may be used to help open airways by clearing thick secretions. Techniques that physically remove mucus from the lungs may be used at home and usually involve manually clapping on the chest and back while leaning over a bed.

Pancreatic enzymes are available to replace those that may be missing to help thin the mucus and make it easier to cough up. Vitamin supplements and better nutrition are also recommended, while pain relievers such as ibuprofen are used to potentially slow lung deterioration in children. More extreme treatment is also available including lung transplantations for those with severe or life-threatening complications, or for individuals who have become resistant to antibiotics.