Tag Archive | "cystic fibrosis"

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The History of Cystic Fibrosis


Cystic fibrosis was a disease that has been around since the Middle Ages. Many infants with salty skin often died in infancy or young. These babies and children were considered bewitched because they died at such an early age.

The scientist Fanconi first named the disease in medical history when he refers to it as cystic fibrosis with Bronchiectasis. A scientist from Columbia University first developed a complete profile and description of cystic fibrosis symptoms. A profile did not help much with treatment in 1938. It was finally discovered in 1949 that cystic fibrosis was caused by a recessive mutant gene. Diagnosed then as a genetic disease improvements are being made each year in treatments for this incurable disease.

In 1953 the Pediatric Society noticed cystic fibrosis patients suffered from excessive dehydration during a heat wave in New York City. Columbia University discovered cystic fibrosis patients were secreting large amounts of salt in their sweat. This is what led to developing the sweat test to diagnose cystic fibrosis.

More advances were not made until the early 1980s when researchers discovered organ damage caused by cystic fibrosis was caused by the malfunction of the epithelial tissue. In 1989 a pair of scientists discover and isolate the gene responsible for cystic fibrosis. The gene was credited to the chromosome number seven. It is responsible for cystic fibrosis.

Today, in 2007, strides are being made in treatment and early diagnosis of cystic fibrosis but there is still no known cure for the disease. The basic problem with the disease of cystic fibrosis is the same in all patients. The abnormality in the number seven chromosomes affects the glands that produce sweat and mucus. Our bodies need sweat to keep cool but the mutant gene causes excessive loss of salt in the sweat. Mucus is good to have too because it lines important organs in our body keeping them from drying out. Cystic fibrosis causes the patients mucus to become excessively heavy, discolored, and sticky. Mucus sticks to the lining and allows germs, bacteria, and infections to linger and cause severe infections.

Cystic fibrosis normally affects the digestive and respiratory system but is known to affect other organs also. CF causes liver problems, digestive disorders, and can even lead to osteoporosis and bone loss. If a person loses a great deal of salt in their sweat, it can cause abnormal heart rhythms and shock. When the digestive organs are affected, the patient does not process food as they should and the body does not receive enough of the vital nutrients it needs.

Patients with cystic fibrosis should take steps to maintain good health including eating healthy foods, staying active, and avoiding smoking or being in a smoky place. Cystic fibrosis patients already have problems with breathing and smoking further complicates an already incurable disease. Staying active will help keep the thick mucus loosened so it can be expelled from the body. Patients may also want to take supplements because the digestive system has problems digesting foods.

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The Affect of Cystic Fibrosis on Children


Over 4,000 children are born with Cystic Fibrosis in the United States each year. They get the disease when both of their parents have the Delta F508 gene. There are over 1200 mutations of the Cystic Fibrosis gene. Some cause less damage and have milder symptoms than some of the other genes. If you believe you may be a carrier of this mutant gene, you can be genetically tested before you decide to have your first child or add to your family.

A child is normally diagnosed with cystic fibrosis before they are three years old, but sometimes can be diagnosed even in adulthood. The symptoms normally will be displayed around the lungs and in the digestive system of the body. Some children born with cystic fibrosis may experience symptoms as soon as they are born. These children may be born with a condition called meconium ileus. A newborn will pass a thick, dark, putty-like substance through the rectum. Meconium will normally pass through the body and out the rectum in the first couple of days of life. Children with cystic fibrosis will have meconium too thick to pass and it will sometimes completely block the babys intestines.

A baby that does not experience any problems with meconium ileus may be diagnosed because they are eating normally and still not gaining weight. The mucus is thick and blocking the pancreas, which keeps the pancreatic juices from flowing into the childs intestines. The intestines cannot absorb the proteins and fats the body needs. This forces the nutrients out of the system instead of being used. A stool sample of the affected child will be oily and bulky. It will also cause a problem with a high risk of deficiencies of the vitamins that are fat-soluble. The result can be abdominal pain, a swollen belly, and excessive gas.

Children who are suffering from some of these symptoms may also have a salty taste when their parents kiss them because cystic fibrosis also affects the sweat glands. On very hot days they may lose large amounts of salt when they sweat. Children with Shwachman-Diamond Syndrome mimic the same symptoms as cystic fibrosis but fail the kiss test because their skin is not salty tasting. Shwachman-Diamond Syndrome is the most common form of pancreatic problem in children. The children have a reduced ability to digest food. Shwachman-Diamond Syndrome is second only to cystic fibrosis in problems with pancreatic insufficiency.

A child diagnosed with cystic fibrosis will often have repeated lung infections because they have heavy, discolored mucus. A child with CF may also have problems with nasal congestion, chronic sinus problems, wheezing, and other symptoms that resemble asthma. As the disease progresses, the child may develop a cough that will not go away and that produces heavy, thick, discolored mucus. They will be at risk for repeated lung infections. The childs breathing is affected and they may have difficulty breathing or feel short of breath if they are resting quietly.

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Symptoms of Cystic Fibrosis


Symptoms of cystic fibrosis will normally show in children by the age of three. Adults can be diagnosed with cystic fibrosis but that is usually rare. Each child may experience symptoms differently and some will have mild symptoms and others may be more serious. Most victims of cystic fibrosis will experience thick heavy mucus that collects in the lungs and intestines. This can result in poor nutrition and poor growth. Some children may experience frequent upper respiratory infections that result in breathing difficulties. Cystic fibrosis patients may experience gland abnormalities in sweat and mucus glands that can cause an abnormal balance of minerals in the blood. Other symptoms may include abnormal heart rhythms and shock.

There are more serious symptoms of cystic fibrosis but it is hard to predict the severity of your childs symptoms. They may experience nasal polyps and frequent sinus infections. If you notice your childs fingers and toes becoming enlarged and getting wider that may be a symptom of cystic fibrosis. This is especially obvious in the fingers. Your infant or toddler may experience bloating in the stomach, pain, and excessive gas. Gas may also accumulate in the plural cavity and eventually cause lung collapse.

Another serious symptom of cystic fibrosis is a chronic cough that produces thick, sticky mucus. The mucus is usually discolored and the child may also be coughing up blood. Enlargement of the right side of the heart may be a result of cystic fibrosis. These are serious complications, which is why it is so important to get an early diagnosis of this disease.

Your child may not be having the serious complications of cystic fibrosis, but there are other signs that may signal the disease is in the childs body. If your infant or toddler has frequent bouts of diarrhea that look greasy, does not go away, and smells horrible, this may indicate the presence of cystic fibrosis. A child who experiences frequent bouts of persistent cough, wheezing, or pneumonia may have cystic fibrosis. Pay attention when you kiss your child. A kiss that tastes salty may be a signal the child has cystic fibrosis. The symptoms of this disease often are mimicked by other conditions and medical problems. If you have any question about your childs health, consult your doctor immediately.

One more item of interest for those who suspect a problem in their infant or toddler is the fact they are not growing at the proper rate for their age. They may have a healthy appetite, eat regular and balanced meals, and express hunger between meals but are still not growing properly. Cystic fibrosis prevents the essential nutrients from reaching the body. If your child is eating regularly but still not thriving you should take him or her to be checked by your family doctor. They may recommend seeing a doctor that specializes in cystic fibrosis.

Dont take a chance with the health of your child. If your child has any of the symptoms listed in this article, take them to the doctor to be checked.

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Strong Signs of the Presence of Cystic Fibrosis in The Body


Cystic fibrosis is a serious disease with life-threatening complications. It is important a patient have an early diagnosis so treatment can begin immediately. Symptoms will get worse and will make the disease more difficult to control and treat. The disease affects the glands that secrete mucus and sweat. Both are important for the body to work properly but a mutant gene affects these glands. These glands secrete a thin, watery liquid that is used to lubricate the important passageways and the major organs in the body. Patients who carry the mutant gene have mucus that is thick and sticky. It gathers in the lungs and air passages making it difficult to breath. Remember, stress will aggravate the breathing problem!

Other signs and symptoms of the disease are a change in color of the sputum the body coughs up and an increase in the amount. This will normally be accompanied by a chronic cough and the cough may bring up mucus and sputum streaked with blood.
Wheezing, repeated bouts of bronchitis and wheezing are strong signs the body may have the mutant cystic fibrosis gene. A patient may find polyps in their nose and have repeated bouts of sinusitis. Asthma attacks are also possible.

Unexplained weight loss in a child or teenager, and a failure to thrive in a young infant may also be signs that cystic fibrosis can be attacking the digestive organs. An infant may experience a swollen belly, stomach pain, and excessive gas. A baby may have diarrhea or the other extreme and have a bowel blockage.

After the first few months of life, mothers or caregivers may kiss the baby and find they have a salty taste. If you notice this sign in your child, they should be taken to the doctor immediately for further testing.

Signs of the disease in older children can be unexplained weight loss even though they are eating a normal, healthy diet and their appetite is good. The delayed onset of puberty may be another hint the child has the cystic fibrosis gene. Children born with cystic fibrosis often have their reproductive system affected. Males with cystic fibrosis are sterile. Females with cystic fibrosis may have a reduced chance of becoming pregnant, but they can conceive and carry a child to full-term or near full-term.

A mutant gene that produces the protein that moves chloride ions through cell membranes causes cystic fibrosis. When this protein is abnormal it blocks the movement of the chloride ions and water in the organs and cells are blocked. The secretion begins turning thick, heavy and sticky. The stickiness causes the secretion to stick to the walls of the airways and small ducts that go to the intestinal tract. Blocked cells and ducts then become breeding grounds for the normal bacteria that cause illness. Instead of being flushed out of the body, it says and multiplies and causes severe complications.

You must inherit the mutant gene from both parents before you can be born with the cystic fibrosis disease.

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Standard Tests for Diagnosing Cystic Fibrosis


The standard and most common test for cystic fibrosis is the sweat test. Mothers often are performing this test in a maternal way when they kiss their infant and realize they have a salty taste. The sweat test measures the chloride or sodium (salt) is in the childs sweat. The test is normally painless and is conducted by placing a chemical that induces sweat to a portion of the body, usually an arm or leg. Then an electrode is attached to that spot and a mild electric current are passed through the area causing that spot to sweat. The small amount of current may feel tingly or cause that area to feel warm but is harmless and weak. Sweat is collected and sent to a laboratory for analysis for the mutant gene that carries cystic fibrosis.

The sweat test is the most common test and it is done with two separate samples. Both samples may be taken together but will make sure a patient is not given a false-negative or false-positive result. A high slat signals the mutant gene is present in the body and the diagnosis of cystic fibrosis is given. The sweat test does not show how severe symptoms will be or how that person will handle the disease.

The sweat test may not be a test to be used on a newborn because they do not produce enough sweat for a reliable diagnosis. The sweat test is normally not given to an infant until they are two to three months old.

There are other tests that can be performed to test for cystic fibrosis. You may be tested to see if you are a carrier with a genetic analysis from a sample of your blood or saliva. Your child can be tested before birth. If you get a diagnosis of cystic fibrosis it still will not allow you to know how severe the disease symptoms will be. The disease cannot be treated before birth.

Cystic fibrosis is an inherited disease so many families will want to have siblings tested for the mutant CF gene. They may have the gene but show no symptoms of the disease. These tests are usually done as a simple sweat test but in some occasions a blood test will be required. First cousins in a family should also be genetically tested for the cystic fibrosis mutated gene.

Tests can also be performed to test the functioning level of the liver, pancreas, and the breathing capacity of the lungs. Antibiotics will be needed to help fight infections. The heavy mucus allows bacteria, germs, and infections to stay in the system and create chronic respiratory and digestive problems.

The testing done to find out if a person has cystic fibrosis is fairly painless but can be valuable in an early diagnosis of the disease. The disease symptoms are treated and every effort is made to give the patient the best quality of life that is possible with cystic fibrosis.

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Signs and Symptoms of Cystic Fibrosis


Cystic fibrosis is a disorder that causes severe lung damage and digestive problems that could result in malnutrition. The disease is inherited when both parents carry a recessive mutant gene. A child cannot inherit cystic fibrosis if only one parent carries the mutant gene. There is no known cure for this disease. Life span for cystic fibrosis patients have increased by nearly 25 years since the disease was first diagnosed.

Cystic fibrosis affects the cells that produce sweat and mucus. Both of these are important to the body. Sweat helps cool our body, and mucus keeps our essential organs lubricated so they can work properly. Mucus is thin and watery in healthy patients but in those with cystic fibrosis the mucus is thick, discolored, and sticky. Mucus plugs essential passageways to the respiratory, digestive, and reproductive system allowing infection to pile up. The treatments for cystic fibrosis patients are aimed at preventing complications, relieving symptoms, and improving the quality of life.

Specific signs and symptoms will vary from person to person. The basic problem for every patient is the thick mucus; symptoms can vary from patient to patient. Symptoms will vary in the degree of the severity for each person. One child may have respiratory problems that suggest they have cystic fibrosis while another may have severe digestive disorders. Some cystic fibrosis patients may not be diagnosed until they have a delay in the onset of puberty. Occasionally a patient may be a young adult before they are diagnosed but this is rare.

A child with cystic fibrosis may be malnourished and their growth could be slowed. If the disease affects their digestive tract, foods are not digest properly and essential nutrients do not get sent to other areas of the body. An infant may be diagnosed with cystic fibrosis early in life if they suffer from an intestinal blockage. This happens when meconium, which is normally passed out of the body a day or two after birth, instead backs up and blocks the intestines. Meconium is a substance that is naturally expelled through the bowels and shows as greenish black stools.

Other signs in an infant or young child is failure to grow, thick and greasy stools, frequent respiratory infections, bloating and excessive gas. A child may taste salty when they are kissed. Patients with cystic fibrosis have a higher than normal amount of salt in their sweat. Older children who have blocked bowels, greasy and smelly stools should also be tested for cystic fibrosis. Wheezing and coughing that brings up heavy colored mucus is another sign of cystic fibrosis. A child may also have part of the rectum protrude from the rectum caused by stools that are too thick to pass or frequent coughing.

An unusual but common sign of cystic fibrosis is enlargement of the fingertips and toes. Known as clubbing, it is a symptom for CF but can also occur in people with heart problems and other lung diseases. If your child shows any of these signs, call your doctor and have them examined and tested.

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Self-Care for Cystic Fibrosis Patients


If you have a child diagnosed with cystic fibrosis one of the most important steps you can take is to learn all you can about the disease. The good news is with the Internet you are able to find multiple sites to give you the information you need. You can track recent developments in treating the disease and be instantly notified of any breaking news. Educate yourself about nutrition, medication, treatment and how to recognize infections early.

Having a child with cystic fibrosis is stressful, especially if you are the primary caregiver and need to give your child daily chest percussion. The child should have the treatment at least twice a day and for a thirty minute period of time. Learning how to perform chest percussion could potentially save your childs life. A doctor or respiratory therapist will help you learn the procedure.

Keeping your child healthy and caring for them includes keeping their immunizations up-to-date. Normal vaccines should be given on their appropriate schedule and you should consider having your child vaccinated for flu and pneumonia. Cystic fibrosis does not affect the immune system but when a child gets sick they may have more complications than a healthy child.

Your child should be encouraged to lead a normal life. They can take part in sports events and regular physical activity. Exercise will help loosen the mucus in the lungs and airways and improve your heart and lung functions. A child with cystic fibrosis may gain self-confidence and have a better self-esteem if they can take part in a team sport. If a cystic fibrosis patient starts exercising when they are young they are more apt to exercise when older. Simple exercise such as walking, riding a bike or swimming can help. Anything that gets you moving will help loosen the thick mucus build up.

Eating a healthy diet is important for all cystic fibrosis patients. Increasing your caloric intake, taking vitamin supplements that are fat-soluble, and taking pancreatic enzymes can help you stay healthier. Drinking plenty of liquids is another self-care tip you should know. The liquid will help thin the mucus and special care should be taken in the summer when the body lose fluids easily.

If you are a smoker, stop smoking! If you are unable to do that, dont smoke in your car, your home, and do not allow your child to be with people who smoke. Second hand smoke is bad for everyone but especially for those who have cystic fibrosis. Avoid places that will be smoky as much as possible.

Encourage good hygiene habits for everyone in your family. Teaching your family to wash their hands before eating, after they use the bathroom, or if they have been in a public place. Encouraging hand washing is the best way to avoid infections that may turn into severe complications for a cystic fibrosis patient. Especially encourage hand washing when a child comes home from school, or an adult comes home from work.

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Screening Patients for Cystic Fibrosis


Previously, potential parents were tested for the cystic fibrosis gene only if they were considered especially at risk for passing on the disease. Doctors are now routinely ordering the test for partners wanting to have their first child or add to their family.
The test can be performed after the time of conception to see if your baby is at risk for cystic fibrosis. This disease cannot be treated before the baby is born. Your doctor can perform more tests on your baby as the baby develops. Testing done before birth will help you consider the best choices for raising and treating your unborn child.

If you are concerned you or your partner may be a carrier of the mutant cystic fibrosis gene, a sample of blood or saliva from you and your partner can be screened. There are some mutations of the genes that will not show up on this early test. In rare cases, a test may be returned as normal but the person may still be a carrier. This happens rarely but can occur in some patients.

The standard test for diagnosis cystic fibrosis is the sweat test. This test measures the amount of sodium in the persons sweat. An abnormally high-level can be a sign the person has cystic fibrosis. A small amount of an odorless chemical is applied to a small area of the body and an electrode stimulates a mild electric current passes over that spot. It is normally painless; you may feel a tingling or warm feeling because the electric shock is mild. The sweat is collected from the area and sent to a lab for analysis. This sweat test is performed on two samples to make sure a false positive or false negative does not occur. If the sweat collected has a high-level of sodium (salt) it can suggest the patient has cystic fibrosis. This test will not decide how severe the disease will be in the individual and it cannot predict how the person will do with treatment.

The sweat test is not a useful tool in diagnosing newborn babies for cystic fibrosis. Most babies do not produce enough sweat in the first month of life to get an acceptable sample. Sweat tests are normally performed when the infant is two to three months old. If your baby is considered high risk for developing cystic fibrosis, the doctor may want to test the baby as well as any siblings in the family. There are other tests available to use on newborn and infants. These test can measure how well the pancreas, liver and the lungs are working.

Cystic fibrosis is an inherited disease. Testing may be suggested for other family members. First cousins may want to be tested to see if they are carriers of the mutant cystic fibrosis gene. If there is a history of cystic fibrosis in a family you may want to seriously consider genetic testing before you start your family or add to your existing family.

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Problems Associated With Cystic Fibrosis in Adults


Most patients with cystic fibrosis are diagnosed when they are infants or toddlers. Some adults may be diagnosed with the disease but this is normally rare. Modern medicine has found ways of giving a cystic fibrosis patient a better standard of living and a longer life span. With this longer life span come more medical problems caused by cystic fibrosis. Adults who recently have been diagnosed with cystic fibrosis may want to ask relevant questions of their doctor. Education is the key to controlling and treating any disease, especially cystic fibrosis. You should choose a medical team that specializes in treating the disease.

Drugs that are prescribed or found over-the-counter may be used to control the symptoms and allow the patient to have a better quality of life. Chest physiotherapy is recommended either manually or by a mechanical device that will loosen the mucus and help the body expel it. Some manual methods are controlled breathing exercises, and lying down while the chest and back area is manipulated and thumped to loosen the thick mucus and move it out of the air passages. This chest therapy should be done every day to avoid a massive build up of the thick mucus.

Cystic fibrosis patients may find they have digestive problems even though they are eating a healthy diet. They may be eating a balanced, high-caloric menu filled with all the essential vitamins and minerals your body needs and still having digestive problems. A doctor and nutrient specialist can help relieve excess gas; bloating, and accompanying pain felt when the body is having digestive problems. A patient may be asked to take supplements of Vitamins A, D, E, and K and a pancreatic enzyme to promote a healthier digestive tract.

An adult patient suffering from cystic fibrosis may develop liver and gallbladder problems. Diseases in the gallbladder and liver may be treated in various ways. A patient may have gallstones removed in a conventional surgery using small incisions to remove the gallbladder and stones. Some doctors today are using laparoscopic surgery and removing the diseased gallbladder through one small incision in the belly button area.

Using a therapy to dissolve formations found in the liver can treat liver disease. Oral dissolution means taking an oral medication, normally a drug with ursodeoxycholic acid will dissolve any formations in the liver.

Infertility is a problem that affects men with cystic fibrosis. Almost 90 percent of men who have CF are infertile. Artificial insemination with donated sperm or adoption is the only options an infertile man has to father a child. A woman may become pregnant in the regular way but pregnancy may leave the woman with severe lung damage. This could be life threatening. If a cystic fibrosis patient cannot find any relief from these severe complications and are facing reduced lung efficiency and death a doctor may recommend a lung transplant. Fifty-five percent of patients who receive a lung transplant have a life expectancy of about three more years.

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Preventing Infections in Cystic Fibrosis Patients


There is no known cure for cystic fibrosis so the main purpose of treatment is to reduce the severity of the symptoms and give the patient the best possible quality of life. New antibiotics developed recently are more effective in fighting infections and killing the bacteria that causes them. Faster acting inhalers deliver the medications straight to the airways. Long-term users of antibiotics have the potential of developing a resistance to drug therapy.

The role of white blood cells in the body is to attack bacteria. When the DNA in the cells is released it makes the mucus thicker. There is a new aerosol drug that can be prescribed to breaks up the DNA into pieces and makes the mucus thinner. The new drug is called dornase alfa and it does have side effects. The drug can cause sore throat and increased irritation in the airways.

Medications including albuterol may help keep the air passages and bronchial tubes clearer. Cystic fibrosis patients must have a way to clear the mucus from their lungs and air passages. There are several methods used to clear mucus. Manually clapping the back and chest with a cupped hand will loosen the mucus. This is best done while the patients head is hanging over the edge of the bed. Gravity will help clear the thick mucus from the pulmonary area.

A mechanical device called a chest clapper is now available to cystic fibrosis patients. Also on the market is an inflatable vest that uses a high frequency vibration to loosen the mucus and allow the patient to cough it up. Patients with cystic fibrosis both adults and children need to have this treatment twice a day. Older patients may be able to clear their bronchial areas with these electrical devices but young children should have help from an adult.

A healthy diet can help a patient with cystic fibrosis combat infection. If the disease is affecting the digestive tract a patient can become malnourished because cystic fibrosis affects the pancreas and the enzymes needed to digest your food do not get to the stomach. A higher caloric intake will help with some deficiencies but a patient with this disease should take extra vitamins and enzymes to maintain weight. They may also consider nutritional drinks to supplement their diet.

The last resort for a cystic fibrosis patient is a lung transplant. Severe breathing problems may prompt your doctor to recommend this treatment. You should realize a lung transplant is not a cure for the disease. Your doctor will help you decide if you are a good candidate for a lung transplant. Some factors to consider will be your over-all health, your lifestyle and the availability of donors in your area. A lung transplant will mean replacing both sides of the lung because cystic fibrosis affects both lungs. Having a lung transplant is a major surgery and there are serious complications to consider before deciding to have the operation. There is a risk of postsurgical infections that could be risky.

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