Cystic Fibrosis
Basic Information
Cystic fibrosis is a severe genetic disorder that damages the respiratory and digestive systems. Its onset often occurs during infancy, and almost always happens before the person reaches the age of three. Currently, as there is no cure, cystic fibrosis is the inherited disease that causes the most deaths in America. It is also the most common cause of chronic lung disease in infants and small children. Each year this disorder affects around 30,000 children and young adults, one thousand of which are new cases. Because it is caused by an inherited genetic defect, cystic fibrosis is not contagious in that it cannot be “caught” through contact with a person who has the disease.
The mutated gene that results in cystic fibrosis was discovered in 1989. Since that time, great advances in research have been made, which hopefully will lead to effective treatments and extended life expectancy. The gene that researchers have isolated is a gene that produces a protein called “CFTR”. This protein regulates the transport of salt across the cell membranes that surround the lungs and the pancreas. Every CFTR protein contains two smaller components, called “alleles”. If one of these alleles is defective, the person will not develop cystic fibrosis. However, they are considered a carrier, which means that they can pass down the defective gene to their offspring. At the same time, when both of the alleles are defective, the person develops cystic fibrosis.
When a person has cystic fibrosis, the body manufactures extra-thick mucus that builds up in the breathing passages of the lungs. The cause of this abnormal mucus is the genetic defect that results in the improper delivery of salt to the lungs and pancreas. As a result, the mucus deposits cause the improper functioning of the lungs and pancreas, and quickly lead to a body that cannot heal itself.
In the lungs, the accumulation of thick mucus results in chronic lung complications, such as persistent wheezing, coughing or pneumonia. People with cystic fibrosis can have great difficulty with their breathing. The mucus deposits perpetually invite bacterial growth and other sources of infection.
The mucus build-up also obstructs the pancreas, which in turn afflicts the digestive tract. The pancreas produces certain enzymes that are required for the breakdown and digestion of food. When a person has cystic fibrosis, the mucus blocks these enzymes from entering the intestines where they normally perform their digestive tasks. As a result, many people with cystic fibrosis suffer from malnutrition. Without the aid of supplements, their bodies do not always receive the necessary amount of nutrients to maintain good health. Many people with this condition develop steatorrhea, or diarrhea that contains undigested food.
As a genetic disorder, cystic fibrosis affects Caucasians more than any other ethnic group. It is not very common among other ethnic groups. It is estimated that approximately one in every 2500 Caucasians is affected and that 3 percent of Caucasians carry the cystic fibrosis gene. While cystic fibrosis can not be transmitted from one person to the next (unless through genetic transfer), it is fatal. Most people with this disorder to not live past the age of thirty. Also, most men with this disorder are infertile.
Symptoms
Cystic fibrosis has many symptoms. They include:
The salty-tasting skin occurs primarily in infants. Because the cellular membranes cannot absorb the salts, the salts move into the sweat glands, which in turn secrete the high salt concentration out through the skin. The result is excessively salty sweat.
Diagnosis
There are several tests that can be performed to diagnose cystic fibrosis. Because the disorder is genetic, the doctor will ask about the family medical history. Afterward, the doctor might use diagnostic examinations. The normal diagnostic test is a sweat chloride test. This test is a quick and non-invasive procedure that measures the concentration of salt in the sweat. An abnormally high concentration of salt in the sweat is a strong indicator that the person has cystic fibrosis.
Other tests that can be used to diagnose cystic fibrosis include:
Oftentimes, when there is some concern that a newborn infant is at risk of developing cystic fibrosis, a doctor will perform a neonatal screening. A neonatal screening measures the level of trypsin in the pancreas. During this procedure, the doctor punctures the skin with a needle and collects blood onto an evaluator device. While the doctor draws blood the infant or small child might feel mild discomfort. A neonatal screening is a quick and completely safe procedure. The doctor will be able to immediately read the results. If the test comes out positive, the doctor will probably advise other tests before confirming the diagnosis.
Treatment
Currently, there is no cure or prevention for cystic fibrosis. When a person has cystic fibrosis, it is a good idea to screen other family members. This will reveal other family members who are carriers of the mutated gene.
If left untreated for too long, cystic fibrosis can greatly shorten life expectancy. Even with treatment, most people do not live past the age of thirty. The treatment of cystic fibrosis depends on the severity of the disease, and the organs that are affected. Treatment methods are also directed at the symptoms that arise due to impaired organ function, such as halting the development of pneumonia in the lungs.
Antibiotics are often used to eliminate respiratory infections. They can be taken in pill form, through medicinal vapors, or intravenously. Medicinal vapors are effective because they can open up obstructed respiratory passages. A device that emits medicinal vapors is called a “bronchodilator”. At the same time, there is some evidence that ibuprofen can slow down lung deterioration. Researchers are currently working on other drugs that can thin mucus in both the lungs and the pancreas.
Diet is also very important in the treatment of cystic fibrosis. A good diet can greatly extend a person’s life expectancy. When a person has this disorder, they do not get the amount of nutrients that a healthy body needs. As a result, people with this problem need to both eat a specialized diet and replace missing vitamins and enzymes with supplements. An enzyme called a “enteric-coated pancreatic enzyme” is particularly useful in helping with the absorption of fat, starch and protein. These enzymes can be taken with meals and snacks.
A diet for a person with cystic fibrosis should focus on making sure the person is getting enough nutrients to maintain both physical health and physical development. Immediately following birth, a diet that is high in proteins and calories is crucial. The person should also take a multivitamin supplement.
Postural drainage is another form of treatment. It is also called “chest physical therapy”. This therapy involves strong compressions (using cupped hands) on the back and chest that are used to loosen mucus in the lungs. Once loosened, the mucus can be expelled through forceful coughing.
In some cases, when the condition is very severe, a lung transplant is required.
Outcome
Although cystic fibrosis is still a fatal disease, great strides forward have been made in regard to its treatment. Whereas life expectancy was no more than 8 years as recently as a few decades ago, a person with this condition can now hope to live to at least thirty years of age. It is now not only considered a “children’s disease”. In fact, many new obstacles have developed as people with this condition now live long enough to be able to attend college, hold jobs, and have long-lasting relationships.
A person who has cystic fibrosis can expect to undergo recurring hospitalizations throughout their life. They will also have to constantly take antibiotics and vitamin supplements. These various medicines, along with proper diet, can greatly extend a person’s life and improve quality-of-life. Ultimately, however, complications arise that lead to severe debilitation or early death.
Currently, about half of all people who develop cystic fibrosis live past the age of twenty. The most common complications include pneumonia, osteoporosis, arthritis, liver disease, diabetes, chronic respiratory failure, hempotysis, and pneumothorax. The most common cause of death is lung degeneration. With the discovery of the gene that causes the disease, many medical advances involving improved treatment methods have been made possible. Currently, researchers are testing new antibiotics specifically designed to reduce mucus build-up in order to eliminate life-threatening complications. So far, reports regarding these new antibiotics have been very favorable.