Take enzymes. Most teens with CF need enzymes to help them digest food and get nutrients from it. Eat a high-calorie diet and take vitamin supplements, when needed. What Causes Cystic Fibrosis? What Happens in Cystic Fibrosis? Thick mucus can also affect the liver, the sweat glands, and the reproductive organs.
If you have CF, focus on staying as healthy as possible: Follow the treatment plan. Take medicines as directed, eat high-calorie meals and snacks, and follow instructions for clearing chest mucus. Focus on other things.
Find pastimes to enjoy, like art, music, reading, or learning to cook. It's important for teens with CF to get exercise, so also look for ways to stay physically active. Turn to the care team. Your CF care team can offer practical tips on living with CF, and information about clinical trials, support groups, and new therapies. Learn all you can about CF.
Experts are always working on new treatments to help people with CF have a better quality of life and live longer. Online, turn to resources like the Cystic Fibrosis Foundation website.
Take charge of your medical care. Start early to help manage your CF. Not every child from this family will necessarily have CF. Other children could inherit a single CF gene from just one parent, and thus become a carrier for CF, or they could inherit no CF gene and be completely free from CF. Since , when the CF gene was first discovered, research has made great progress in understanding CF. A simple, painless test called a sweat chloride test can then be done.
CF causes a large amount of salt to be lost in the sweat. Measuring the amount of salt in the sweat can determine whether or not a person has CF. What is a gene? A gene is the basic unit of heredity. Genes are responsible for the physical characteristics that each person has like eye color, facial features, and many health conditions.
Each gene occupies a certain location on a chromosome a thread-like material that is located in the nucleus of every single cell in the body. Chromosomes come in 23 pairs, and each chromosome carries thousands of genes. What happens? Each gene has a specific role in determining how a person's body is put together and how it functions.
The role of a gene is determined by its individual DNA code deoxyribonucleic acid, the chemical coding for a gene. DNA is made up of four building blocks called bases.
These bases are joined in a specific order for each gene. When a change occurs in the arrangement of the bases, it can cause the gene not to work properly. What are genetic disorders? A structural gene change which can cause a disease or a birth defect is called a mutation.
Genes are inherited in pairs, with one gene inherited from each parent to make the pair. Cystic fibrosis occurs when both genes in the pair have a mutation. A person with cystic fibrosis inherits one CF gene from each parent. Cystic fibrosis is a genetic disorder caused by inheriting a pair of genes that are mutated or not working properly.
However, some of the inherited copies are mutations. To date, over mutations of the CFTR gene have been identified. These mutations can either be homozygous, the same, or heterozygous, different mutations. Those homozygous for this mutation tend to be pancreatic insufficient.
What Does the Mutation Do? The CFTR gene is a protein that functions as a chloride channel. A chloride channel helps maintain the proper balance of salt and water within a cell. A mutation in CFTR causes a dysfunction of the salt and water balance.
This causes dehydration of the secretions thick mucous and excessive loss of salt in sweat. What is a carrier? A carrier is a person who only has one copy of the mutated gene. The parents of a child with CF each carry one CF gene and one normal gene.
They have no symptoms and no disease. How does CF occur? When each of the parents contributes a gene to their child, they could pass on either their CF gene or their non-CF gene. Each pregnancy could result in one of three outcomes:. Can I find out if I have a CF gene? At the present time, carrier testing is available through a DNA test.
If a family member has CF and the gene mutation is known, discovery of the CF gene in other family members can be made with great accuracy. The Human Genome Project. What happens in the lungs: The lungs are like an upside down tree: the trachea is the trunk, the bronchi are the main branches, the bronchioles are smaller branches, and the alveoli are the smallest little twigs and leaves.
Normally, tiny hair-like structures known as cilia remove mucus and other substances from the lungs, and bacteria are cleared out. But, because CF produces thick, sticky mucus, the cilia cannot sweep the lungs, and the bacteria remain. Mucus then builds up in the lungs, and lung function starts to drop. It is this residual infection and poor lung functioning that can cause permanent lung damage over time. What treatment can be done: The basic daily care program varies to suit individual needs.
These are some common pulmonary therapy treatments:. What Is an Infection? An infection occurs when pathogenic microorganisms like bacteria, viruses, or fungi invade tissues where they don't belong. Why Do People with CF have to worry about all this? People with CF have thick mucus which can trap microorganisms in the lungs. Thick mucus is hard to remove, so the microorganisms remain in the lungs, growing and reproducing.
Once these organisms are established in the lungs, there are more frequent lung infections. Infection weakens the body and the immune system. Repeated infections initiate a cycle of inflammation and infection which soon becomes a chronic condition. What is the digestive system?
The mouth is the start of the digestive system. Saliva starts the digestive process. Symptoms start in childhood. On average, people with CF live into their mid to late Some people can carry the CF gene without being affected by the disease.
They usually do not know that they are carriers. The abnormal electrolyte transport system in CF causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water.
This causes the normal thin secretions in the lungs to become very thick and hard to move. These thick secretions increase the risk for frequent respiratory infections. Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs. Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough, blood in the sputum, and often even have a collapsed lung.
The cough is usually worse in the morning or after activity. People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections. CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.
The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. The problems with the pancreas can become so severe that some of the cells in the pancreas die. The liver may also be affected.
A small number of people may develop liver disease. Symptoms of liver disease include:. Most males with CF have blockage of the sperm canal. This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can't travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.
Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, such as mucus and sweat.
The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF. A person will be born with CF only if 2 CF genes are inherited—one from the mother and one from the father. Cystic fibrosis CF is inherited, and a person with CF had both parents pass the altered gene to them. The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF.
All U. This means that parents can know if their baby has the disease and can take precautions and watch for early signs of problems. The following are the most common symptoms of CF. However, people may experience symptoms differently, and the severity of symptoms can vary, too. Symptoms may include:. Thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines.
This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease. Clubbing of fingers and toes.
0コメント