Tag Archive | "cystic fibrosis gene"

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What Causes Cystic Fibrosis?



The Cystic Fibrosis Foundation estimates there are over 30,000 Americans with cystic fibrosis. This disease affects mostly Caucasians whose ancestors came from northern Europe. It does affect all racial and ethnic groups but white Caucasians are more at risk for developing or being a carrier of the defective gene that carries cystic fibrosis. The average lifespan for a patient diagnosed with cystic fibrosis is 30 years. New technology and scientific advances are making life better and improving predictions of life spans for cystic fibrosis patients.

Cystic fibrosis has these signs and symptoms but will be different for each individual patient. Patients with cystic fibrosis are often diagnosed before the age of three but diagnoses have been given to teens and adults also. One of the symptoms of cystic fibrosis is a delay in the onset of puberty. Your teen may experience frequent stomach pain, excessive gas, and be late in entering puberty. Other signs and symptoms of cystic fibrosis are excessive and thick mucus in the lungs, chronic cough that brings up discolored mucus and possibly blood. Frequent upper respiratory infections, bronchitis, asthma, and wheezing may point to a problem with cystic fibrosis.

Another unusual symptom of cystic fibrosis is nasal polyps. These are fleshy growths found inside the nasal cavity. Severe attacks of sinusitis can be an another sign of this devastating disease. Fatigue is a part of having cystic fibrosis and weight loss, or abnormal growth patterns even if the patient is eating a regular and healthy diet. This is called failure to thrive and a doctor should see a child who displays this symptom. If you kiss your baby or toddler and their skin has a salty taste, take them to the doctor for an evaluation. Newborn babies who are unable to pass stools, have colic symptoms, and have excessive gas should also be seen by a health care professional.

Cystic fibrosis is an inherited disease of the glands that produce sweat and mucus. It is often found in the digestive, reproductive, and respiratory system. You can only get this disease if you have parents that each has a mutant abnormal gene. If only one parent has this abnormal gene, you will probably be a carrier but not exhibit any of the diseases symptoms. The gene that is affected is a gene that produces a protein that moves chloride through the cell membranes. This is a part of sodium chloride or just simple table salt. If this cell is abnormal, the flow of chloride ions and water become blocked because there is a secretion of abnormally thick mucus. This sticky substance sticks to the walls of the passageways to the respiratory, reproductive, and digestive organs blocking them from receiving the important nutrients they need. It can affect the pancreas, liver, colon, urinary track and lungs. A baby born with the abnormal cystic fibrosis gene usually will show symptoms within their first year. Sometimes symptoms will not begin to appear until the child reaches the age of puberty.

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Treatment Choices for Cystic Fibrosis


Cystic fibrosis has no known cure. There are treatment choices to help ease the symptoms of the disease and give the cystic fibrosis patient a better quality of life. There is no way to prevent cystic fibrosis. It is a genetic disease caused by an abnormal, mutant gene. Chromosome number seven is the specific gene that mutates and holds the cystic fibrosis gene. A person can only get the disease if both parents have the abnormal gene in their system. If only one parent has the abnormal gene, the child can be a carrier but not show any signs of the disease. Preventing the disease is not currently possible.

If we cannot prevent cystic fibrosis then we must learn more about the disease and find new ways of treating the illness. In todays world the disease can only be slowed and the cystic fibrosis patient can be given a better quality of life. Cystic fibrosis often causes frequent lung and upper respiratory problems caused by obstructed breathing passages. The basic parts of treatment for cystic fibrosis are physical therapy, proper diet and exercise, and medications for reducing the mucus that blocks the passageways.

There are medications that can ease the discomfort of cystic fibrosis and many are in the form of an aerosolized mist that can be inhaled. One treatment includes using bronchodilators, which are used to widen the bronchial tubes associated with the lungs. Mucolytics that are used to thin the mucus, and decongestants that are used to help reduce swelling in the membranes in the breathing tubes. Antibiotics are often used to fight lung infections and an enzyme is administered to help think the mucus that is sticking to the passageways. This mucus often is a breeding ground for bacteria and infection.

If the digestive organs are affected by cystic fibrosis the patient can be given pancreatic enzymes, which will help the digestive system. Enemas can be used to treat blockages in the intestines caused by cystic fibrosis. Patients who experience severe symptoms and complications of cystic fibrosis may require surgery and other more drastic therapy. A patient who is having respiratory failure may need a heart-lung transplant to prolong their life. Patients with cystic fibrosis who experience gastrointestinal problems may need surgery too.

A cystic fibrosis patient may also look to alternative forms of medicine or homeopathic methods to ease the symptoms of this disease. There is a wide range of these therapies available. You should always consult your doctor before using an alternative medicine approach to your disease and do not use an alternate therapy and drop your prescribed therapies. Alternative medicines include maintaining a healthy eating pattern, regular exercise, and reducing stress. Cystic fibrosis patients should also keep a positive attitude and try to keep their stress level at a minimum. Exercise will help reduce stress and anxiety and lift your mood. These are effective in treating any disease including cystic fibrosis. Keeping a positive attitude will help ease symptoms and allow you to have a better quality of life.

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The Risk for Being A Carrier for Cystic Fibrosis


The only way a person can inherit the cystic fibrosis if both their parents are carrier of the mutant cystic fibrosis gene. Scientists know that one in every thirty people are carriers of this mutant gene. Your risk is higher if you are a Caucasian with ancestors that came from the Northern part of Europe. If you have a family history of cystic fibrosis, you are more likely to be a carrier of the mutant gene. If you are Caucasian, your risk of being a carrier of the disease is 1 in 29. The statistics change dramatically for those of Latino descent. Only 1 in 46 people will be a carrier. If you are of African-American descent the risks drop even lower. Only 1 in 90 African-Americans will be a carrier for the mutant cystic fibrosis gene.

If you have genetic testing and find you and your partner are both carriers of this mutant gene, your doctor can test your baby before it is born to see if the baby has the disease. It cannot be treated before the baby is born, but if you are aware the disease is present you will have time to look at all choices. It will allow you time to learn as much as you can about the disease and search for specialists or clinics in your area. Education is power. The more you know about this disease, the better you will be in handling the treatment. Cystic fibrosis is not curable, and any tests taken on embryos will not be able to discover how severe the symptoms will be for that child.

Cystic fibrosis is not curable but is treatable and new advances are being made in the treatment of this disease. Previously, the average lifespan for a child diagnosed with cystic fibrosis was 16 years old. Now patients are living much longer with the average lifespan close to 40 years old.

Doctors and scientists estimate there are more than 30,000 children and adults with cystic fibrosis in the United States. Cystic fibrosis affects major organs of the body including the lungs, the digestive tract, reproduction organs, and the liver. Thick, sticky mucus accumulates in the respiratory and digestive organs. This mucus becomes hard and difficult to remove because it is thick and sticky. This restricts the flow of air in the respiratory system and keeps the body from digesting food. Food not digested properly can cause malnutrition and an inhibited growth to a young child.

There are times when a child is not diagnosed with cystic fibrosis until they are teens. The first sign of cystic fibrosis may be the delay of the onset of puberty. Normally, cystic fibrosis is diagnosed within the first few months of life. Remember, your infant cannot inherit cystic fibrosis unless both you and your partner are carriers of the mutant cystic fibrosis gene. If only one parent is a carrier then the infant there is a twenty five percent chance a child may be a carrier of the CF gene.

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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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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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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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Introduction to Cystic Fibrosis


Cystic fibrosis was a mystery disease until the mid 1940s. Then it was identified with the inability to clear mucus from the lungs and air passages. Some scientists and researchers believe it developed because of preventive measures taken for cholera. If a child was diagnosed with cystic fibrosis in the 40s they rarely survived childhood. In the 1970s the survival rate of a child with cystic fibrosis was sixteen! Treatment was supportive in nature and did little more than improve their quality of life. Today there is still no known cure for cystic fibrosis but there are treatments and medications available that prolong life and give the patient a better quality of life. In 2006 the survival age of cystic fibrosis patients rose to the late 30s.

In 1989 scientists discovered the cystic fibrosis gene was a mutant gene that is passed on from parent to child. Children cannot inherit cystic fibrosis if only one parent carries the mutant gene! It takes both parents to have the gene for a child to develop cystic fibrosis. For parents who each carry the mutant gene there is a 25 percent chance for having a child with cystic fibrosis and 25 percent the child will not inherit the gene. The remaining 50 percent could be a carrier but not show any symptoms of the disease.

Cystic fibrosis affects many parts of the body including the respiratory organs, reproductive organs, and the digestive system. The normal mucus that lines the passageways of bronchial tubes, lungs, and digestive organs is not think and watery. Instead, it is thick and sticky and adheres to the passageways that lead to the respiratory, digestive, and reproductive organs. Those born with the defective gene makes this heavy mucus amasses and cause problems. If the mucus builds up in the respiratory passages and lungs, the patient will find it harder to breathe. If it builds up in the digestive tract it will not allow essential nutrients to go through the digestive system. A man who is diagnosed with cystic fibrosis is normally sterile.

This disease is detected in children before the age of three but there are occasions when a preteen is found to have cystic fibrosis. One of the symptoms of the disease is a delay in the onset of puberty. There are five common tests for cystic fibrosis. One of the earliest signs an infant or child may have cystic fibrosis is a salty taste to their skin when you kiss them. A high salt level often signals the presence of the cystic fibrosis in the body. Confirmation of a cystic fibrosis diagnosis may be done in four different ways. A trypsin test evaluates the function of the pancreatic gland by detecting amounts of trypsin in the stools of the patient. A patient may go through a pulmonary function test to look at their breathing ability and lung function. Chest x-rays may be used to discover any mucus deposits that have collected in the lungs. Finally, genetic tests can detect the mutant gene that causes cystic fibrosis. These tests can be done before, during, or after a pregnancy. If you know there is cystic fibrosis in your family, you may want to have genetic testing to find out if you and your spouse are carriers of the mutant gene.

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How To Recognize The Symptoms of Cystic Fibrosis in Children


Genetic testing can decide if you and your spouse are carries of the mutant cystic fibrosis gene. Testing can also be done on your unborn child. If your child is found to have the CF gene, there is still no way to find out how severe the cystic fibrosis symptoms will be after the child arrives. Genetic testing on siblings, and both parents to see if any are carrying the mutant gene. Other members of your family may want testing to see if they are carrying the gene if they are planning on starting a family.

The standard genetic test for the CF gene called the sweat test. A small electric carries a chemical called pilocarpine into the skin of the forearm. This small jolt of current will make the sweat glands that are in the area to produce sweat. A piece of gauze or special filter paper gathers the sweat for testing for chloride. The collected sweat is usually tested at a lab that is accredited by the Cystic Fibrosis Foundation. A child that has two positive results of 60 or above in their sweat chloride is diagnosed with cystic fibrosis.

There are several other tests used to check the progress of the disease. Chest x-rays are performed regularly and blood tests are routinely done to discover the nutritional status of the CF patient. Studies will also be made to control the growth of bacteria in the childs lungs. These bacteria may not affect normal people but can harm those who have cystic fibrosis. The bacteria the patient will be tested for is Pseudomonas aeruginosa, Staphylococcus aureus, and Hemophilous influenza. Pulmonary function is regularly When your child is old enough to cooperate with the testing procedure they are given pulmonary function tests. This test check on the effects CF is having on the childs breathing capacity.

Once a child is diagnosed with cystic fibrosis they may or may not need to have a hospital stay after they are diagnosed with the disease. A hospital stay will depend on the condition of the child when cystic fibrosis is diagnosed. If a hospital stay is suggested, they will have several diagnostic tests including and their nutritional needs. Children are often diagnosed with cystic fibrosis because they do not gain weight even after eating a normal diet and having a healthy appetite. Before a child is dismissed from the hospital they will be checked to be sure they have proper lung function and they will be given a diet with digestive enzymes and the vitamins they need to gain weight normally. The child will need to see their doctor at least once every three months.

The child with cystic fibrosis will need daily care but it will be different for each child. Daily care often includes pulmonary treatments to preserve proper lung function. They will also need to have a diet high in vitamins and enzymes that help the digestive system. It is recommended the children be on a high fat diet and given a daily vitamin supplement.

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Genetic Testing and Diagnosis of Cystic Fibrosis


Prospective parents who have a history of cystic fibrosis in their family may want to consider DNA testing before starting or adding to their family. Cystic fibrosis is an inherited disease that can only be passed on to the child if both parents are carriers of the mutant gene that causes cystic fibrosis. If only one parent is a carrier but shows no signs of the disease the child has a 25 percent chance of also being a carrier of the gene.

DNA analysis involves screening molecules found in the DNA to look for the carrier gene. The gene is associated with the number seven chromosomes. There are over 900 mutations of the cystic fibrosis gene. This means screening is never totally accurate. The tests results are only 80 to 85 percent accurate. Genetic testing has cut the birth rate of babies born with cystic fibrosis. Many prospective parents are having genetic testing and opting out of having a child if they are both carriers of the mutant gene.

The most common test to discover the presence of the mutant cystic fibrosis gene is called the sweat test. It is normally not done on an infant younger than two to three months old because they do not sweat enough to get enough samples. The sweat test measures the salt in the sweat of a patient suspected of having cystic fibrosis.
Sweat is collected from the body by first applying a substance that increase sweat on either an arm or a leg. An electrode is then placed on the area and a mild current of electricity is run through the electrode. There is not any pain associated with this test. The most you should feel is a warm feeling or a mild tingling. A special material will collect the sweat from two separate parts of the body and tested. This double test is conducted to avoid getting a false-negative or false-positive reading.

Ironically, it is normally the mother of an infant will perform her own sweat test without realizing it. She may kiss her baby and notice their skin tastes salty. Understanding this may not be normal she will take the baby to the doctor to see if there is something wrong. An infant may display signs of bowel obstructions, chronic diarrhea, bloating of the stomach, pain and excess gas. An infant that fails to grow at a normal rate even though they are eating normally should also be taken to a doctor for evaluation.

Another test used for newborns is the IRT test. Normally this test is a routine procedure done after the birth of a baby. Blood drawn two or three days after birth is analyzed for a protein called trypsinogen. If the babys test comes back positive, the doctor may confirm the diagnosis with a sweat test and other diagnostic tests.

Other form of testing that is done to diagnose cystic fibrosis includes chest X rays, tests to discover the lung function the patient has, and testing the sputum that a patient coughs up. There also stool examinations to make the diagnosis of cystic fibrosis.

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Eating for Health–Foods to Enjoy and Foods to Avoid


Cystic fibrosis patients often have their digestive system attacked by the disease. Obviously a healthy diet is important for everyone but especially for those who are suffering from cystic fibrosis that is affecting their digestive system. The thick secretions caused by the mutant cystic fibrosis gene often block the small ducts that take enzymes from the pancreas to digest the foods in the stomach. When food is not digested properly, the body fails to receive the essential nutrients to grow, keep their weight, and stay healthy.

A person with cystic fibrosis should be able to eat normally but there are some foods they should avoid to prevent complications in the digestive tract. Foods that should not be eaten in large quantities include foods that increase mucus production or can cause allergies. If you are a person with CF and are lactose intolerant, you should not consume large amounts of dairy products. This includes eggs, milk, cheese, and ice-cream. Other foods you should eat only in small quantities are peanuts, bananas, and oranges. Cystic fibrosis patients should avoid saturated fats, wheat, barley, oats, and rye. They should also avoid eating red meat, and of course do not use much salt!

Foods a patient should eat in large quantities are foods that reduce inflammation and mucus. Some foods are widely known to help with health problems such as cold-water fish, nuts, lemons, garlic and onions. These foods can be taken in supplements or they may be added with more consumption of the foods that contain them. Other less widely recognized foods that will help reduce inflammation and mucus include, watercress, horseradish, mustard, umeboshi plums, rose pits tea, pickles, parsley, celery and any foods that include anti-inflammatory oils.

Adult cystic fibrosis patients know their body. They know what helps them and foods that makes them worse. A child is different and they need help from a parent, guardian or caregiver so they will eat right and avoid foods that will hurt them.

It is often difficult for cystic fibrosis patients to receive the vitamins, minerals, and enzymes the body needs. It is recommended that valuable nutrient supplements be added to diet of a cystic fibrosis patient.

Pancreatic enzymes should be taken before each meal or snack. This will help food to be properly digested by replacing the enzymes that are not coming through blocked passageways.
Antioxidants are also important. These fight against the toxins that we take into our body by breathing the air around us. Selenium, vitamin E, vitamin C. and beta-carotene should be taken as a supplement to a healthy diet.
Z-acetyl cysteine should be part of your supplement routine because it helps to thin mucus.
Zinc taken daily will help support the immune system
Quercetin is another supplement that can help reduce inflammation.

Eat lean protein, fresh vegetables and fruits that are allowed and stay away from fats and processed sugar. Eating healthy should be a habit that everyone should practice. It is especially important for a patient with cystic fibrosis.

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