Cystic Fibrosis
By: K. Buss
Introduction:
Cystic fibrosis is a congenital and hereditary disease. It is one of the most common chronic and progressive lung diseases in children and young adults and may result in early death. Cystic fibrosis does not follow the same pattern in all people. Since there are more than 1,000 mutations of the disease, cystic fibrosis affects different people in different ways to varying degrees. 1 out of every 3,000 live births is affected by this disease. Even though there is not a way to prevent cystic fibrosis, there are many great treatment plans available to prolong the life of someone diagnosed with the disease. The earlier the disease is diagnosed the better the treatment plan will work.
Pathogenesis:
Cystic fibrosis is an inherited, incurable, life-threatening disorder that causes severe lung damage and nutritional deficiencies. Normally the secretions produced are thin and slippery, but cystic fibrosis causes the secretions to be thick and sticky. The mucus builds up in the airways of the lungs and digestive tract causing many problems. The mucus clogs tubes, ducts, and passageways in the lungs causing dangerous lung infections, and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
Most children who have cystic fibrosis are fairly healthy until they become adolescent or beginning adulthood. They are able to participate in many activities and should be able to finish school. As life progresses, so does the disease. The lung disease eventually takes over to the point that the person is disabled. Better treatment has developed over the last 20 years; increasing the life span of cystic fibrosis patients. Many children used to not make it to attend elementary school, but now people are on average able to live into their 30s and 40s. Research has shown that some people are able to live into their 50’s or even longer depending on the progression of their disease.
- Signs and Symptoms
salty taste of skin
persistant cough
thick sputum
wheezing
shortness of breath
repeated lung infections
repeated sinus infections
clubbing of fingertips
foul-smelling, greasy stools
poor weight gain in children
poor growth in children
constipation
intestinal blockage
intestinal gas
swollen abdomen
vitamin deficiencies
dehydration
rapid heart rate
fatigue
weakness
decreased blood pressure
heat stroke
infertility (especially in men)
Etiology:
Cystic fibrosis is caused by a defective gene that alters a protein to regulate the normal movement of salt in and out of cells. This causes the body to produce abnormally thick and sticky fluids. The mucus builds up in the breathing passage of the lungs, digestive tracts, and reproductive system. It also causes an increase of salt in sweat. The collection of mucous in the lungs creates life-threatening lung infections and serious digestive problems.
Millions of Americans are carries of cystic fibrosis, but do not have any symptoms. This is because the gene that causes cystic fibrosis is a recessive gene. In order for a child to be born with the disease, both parents must be carriers of the disease. The child has to inherit two copies of the gene, one from each parent, in order to have the disease. If only one copy is inherited, the child does not develop cystic fibrosis, but they are a carrier of the disease. If a person is a carrier of the disease, they may some day pass the gene to their own child.
Diagnosis:
There are many laboratory tests that can be done to test for Cystic Fibrosis.
A blood test can be done to detect the disease. The test looks for a variation in a gene which is known to cause cystic fibrosis.
There is a standard newborn screening test that is done on all newborns to test for the disease. The test is called an immunoreactive trypsinogen (IRT) test. If high level of IRT are found the baby may have cystic fibrosis. Other tests must be done to confirm the disease.
A sweat chloride test is the standard diagnostic test for cystic fibrosis. To do this test, a sweat producing chemical is applied to the person’s skin. The chemical is then stimulated with a very weak electric current. The collected sweat is tested to see if it’s saltier than most people’s sweat. A high level of salt is a sign of the disease.
Genetic testing is when DNA samples are taken from blood or saliva, and they are tested for specific mutations on the gene responsible for cystic fibrosis.
Sputum tests are done if it appears that there is a lung infection. For this test, the patient has to cough up a sample of mucus, so it can be tested to see what germs are in it. From this test, the doctor can choose antibiotics to treat the specific germs.
Organ function tests are done during the course of treatment for cystic fibrosis. These tests help to measure the health of the pancreas and liver.
Imaging tests such as x-rays, computerized tomography, and magnetic resonance imaging are used to test damage done to a person’s lungs and intestines.
Other tests include lung functions tests which measure the size of the lungs, how much air a person can breathe in and out, how fast a person can breathe in and out, and also how well the lungs deliver oxygen to the blood. Also, tests such as fecal fat tests, measurement of pancreatic functions tests, secretion stimulation tests, and prenatal cystic fibrosis genetic tests can be done to identify problems that may be related to cystic fibrosis.
Treatment:
Cystic fibrosis is an incurable disease. It used to be that if a child was diagnosed with cystic fibrosis, they wouldn’t live to start elementary school. Now there are many treatments to prolong the life of people who are diagnosed with cystic fibrosis. Treatments are done to prevent and control lung infections, loosen the tick mucous in the lungs and get it out, prevent and treat blockage of the intestines, provide nutrition, and to prevent dehydration. The main treatments done for lung problems are chest physical therapy, exercise, and medications.
People with cystic fibrosis need a way to physically get the mucous out of their lungs. This can be done manually by the person by clapping with cupped hands on the front and back of the chest. There are also devices that can be used to aid in loosening the mucous. There is a chest clapper which is known as a mechanical percussor. It is a hand held device that has the same effect as clapping cupped hands over the chest. Another device is an inflatable vest. This device uses high frequency vibrations to loosen and force the mucous from deep in the lung toward the upper airways. Once this is done, the person is able to cough up the mucous. A third device is a small hand held breathing device. The person breathes out through the device. It causes vibrations which in turn dislodges the mucous. A mask is another device that creates vibrations to help break up mucous on the airway walls and force it out of the lungs. Other breathing exercises such as forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing may help to loosen mucous and open airways.
Exercise is also good for people who are affected with cystic fibrosis. Doing aerobic exercise makes a person breath harder and can help to loosen the mucous in the airways, so they can cough it up. Exercise also helps to improve their overall physical condition. However, people with cystic fibrosis need to be careful when exercising because the disease causes their sweat to become very salty. When exercising, the body loses large amounts of salt when a person sweats. Because of this, doctors may recommend the cystic fibrosis patient to go on a high salt diet or salt supplements to maintain the balance between minerals in the blood.
Medications are also many times prescribed for cystic fibrosis. These include antibiotics, anti-inflammatory medicines, bronchodilators, or mucous-thinning medicines. Medications are given to help prevent lung infections, reduce swelling, open the airways, and thin mucus in the lungs.
Antibiotics are the main medication prescribed to treat cystic fibrosis. Antibiotics prevent lung infections and treat bacterial pneumonia and other bacterial lung infections. Antibiotics may be taken orally, by inhaling them, or by giving them through intravenous. Oral antibiotics are used to treat the mild lung infections. Inhaled antibiotics are taken to prevent and control infections caused by the bacteria mucoid Pseudomonas. Antibiotics are given intravenously to treat severe or hard to treat infections. Patients normally have to stay in the hospital to receive this type of treatment.
Anti-inflammatory medications are used to reduce swelling in the airways which is caused from ongoing infections. Medications such as these may be taken orally or be inhaled.
Bronchodilators and corticosteroids are inhaled into the lungs using an inhaler. Bronchodilators help open the lower airways in the lungs by relaxing the muscles around them. Steroid inhalers reduce airway inflammation. Bronchodilators are often used just before chest physical therapy to help clear the mucus out of the lungs.
Other medications prescribed may be mucus thinners which help to reduce the stickiness of the mucus and to loosen it up. Mucus thinners improve lung function and help prevent worsening lung symptoms.
Other treatments may include treating digestive problems. Cystic fibrosis can cause a person to become malnourished because the pancreatic enzymes needed for digestion do not reach the small intestine. This prevents food from being absorbed. Other digestive problems include poor growth and development, bulky stools, intestinal gas, a swollen belly, severe constipation, and pain and discomfort. Good nutrition can help prevent infections and improve growth and development. Some nutritional therapy that may be done are taking oral pancreatic enzymes to help digest fats and proteins and absorb more vitamins, and take vitamin supplements such as vitamin A, D, E, and K to replace fat-soluble vitamins that a person’s intestines can’t absorb. Also, consuming a high salt diet before doing aerobic exercise can help treat nutritional needs.
People who have cystic fibrosis also need to avoid smoke, dust, dirt, fumes, household chemicals, and mold. They need to drink plenty of fluids, keep their immunizations up to date, and wash their hands frequently to avoid infections.
Cystic fibrosis patients that have advanced lung disease and reduce oxygen in the blood stream may need to do oxygen therapy. Oxygen is given through a mask or nasal prongs. If other treatments do no work, a lung transplant may be an option for severe lung disease people.
Lastly, there are other complications that may require additional treatment. People with Cystic Fibrosis often develop diabetes and osteoporosis.
Incidence and Mortality:
Incidence: 2,500 babies in the USA are diagnosed each year; 1 in 3,000 Caucasian babies. Approximately 2,500 people in the USA are diagnosed each year
Prevalence: 8,774 people in the USA have cystic fibrosis at one time
Mortality: 485 deaths per year
Research, Charities, and Support groups:
The Cystic Fibrosis Foundation plays a major role in support and research for cystic fibrosis. The foundation was started in 1955 by a group of parents. They created the foundation to understand the disease better because there was little known about the disease, and also to create new treatments, specialize care for children, and find a cure. The Cystic Fibrosis Foundation continues to attract scientists from other fields to join the foundation to find ways to improve the quality of life for people with cystic fibrosis. http://www.cff.org/research
In 1989 scientists found the gene in which caused the disease. Knowing this gene, helped researches make a healthy version of the gene to study off of. Then in 1993, the first gene therapy was given to a cystic fibrosis patient. Also at this time, researches were searching for ways to correct the faulty protein in the gene. Treatments were also discovered in which would help to treat the symptoms of the disease.
There are research centers in California, Alabama, Iowa, Maryland, New Hampshire, Ohio, North Carolina, Pennsylvania, and Washington.
The Cystic Fibrosis Foundation hosts more than 1,200 fundraising events throughout the year. Great Strides is the largest fundraising event. There are more than 560 walks each year held across the US. The newest fundraiser is called CureFinders. This fundraiser is done in schools. Each class competes by bringing spare change in. Which ever class raises the most money gets free lunch delivered to their classroom. There are also fishing and golf tournaments held throughout the year to raise money for cystic fibrosis. Also, the Cystic Fibrosis Foundation hosts many dinners, dances, wine tasting events, and galas to raise money. http://www.cff.org/GetInvolved/Events/
There are many potential cystic fibrosis therapies that are currently in development. Gene therapy is being researched because scientists believe that adding normal copies of the certain gene could possibly correct the cells and cure the disease. Scientists are searching for ways to get the normal copies of the gene into the airways. Next there are CFTE modulations taking place. These are meant to correct the function of the defective CFTR protein. If this therapy works, salt will move properly in and out of cells lining the lungs and other organs that are affected. Therapies are also being done to restore airway surface liquid. Mucus alteration studies are also being done. These studies are being done to test the drugs for their effectiveness in preventing, thinning, and clearing mucus from the lungs. Also, anti-inflammatory drugs are being studied for their ability to reduce inflammation in the lungs of someone with cystic fibrosis. If inflammation can be controlled, it will decrease the chronic damage done to the lung tissues. Anti-infective compounds are being tested for their effectiveness in fighting acute and chronic lung infections. Drugs are also being studied for transplantation purposes. There is one drug being tested for its ability to reduce the chance of an organ transplant to be rejected. Lastly, important factors in nutrition are being tested. This is being done to find better nutrition for people with cystic fibrosis, so that they do not become malnourished and get thick mucus build up. http://www.cff.org/research/DrugDevelopmentPipeline/#Top
http://www.wrongdiagnosis.com/c/cf/stats.htm
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Pathology Project 