In people with CF there is a problem in the transport of chloride across cell membranes, which results in higher concentrations of chloride as salt in the sweat. The sweat test measures this concentration, and is done by collecting a small amount of sweat from the arm or leg. To find out more about the sweat test, download our factsheet or visit our webpage. If you know that you and your partner are both carriers of the cystic fibrosis gene and you are considering a pregnancy then consider seeing a genetic counsellor before you get pregnant.
They can help you to understand more about your genetics and options you may have pre and post-pregnancy. You can be referred to a genetics counsellor by your GP. Parents who are thought to have increased likelihood of having a child with cystic fibrosis may be offered a chorionic biopsy or amniocentesis during pregnancy, to identify if the baby has the condition.
Earlier diagnosis enables treatment to begin at birth, but both these procedures do carry a risk of miscarriage. Antenatal testing is a fast-moving field with new non-invasive technologies now available for some conditions.
Since newborn screening was introduced nationally in , most cases of CF are now diagnosed shortly after birth but sometimes the condition may not be diagnosed until later in life. To find out more, download our diagnosis in adulthood factsheet. For further information about the support we can offer, please contact our helpline on or email helpline cysticfibrosis.
Explore our interactive body to find out all about the different ways CF affects the body, from the lungs and digestive system to the bones and the reproductive system. Find out more about medication, exercise, nutrition, transplant and transition on our treatment page. Find out about the faulty gene that causes cystic fibrosis, how it is passed from parents to children, and how to find out more about your genotype. How is cystic fibrosis diagnosed? Carrier testing If someone has a history of CF in their family, a partner with CF, or a child with the condition, they may choose to get carrier testing.
If someone carries the faulty gene that causes CF, will their child have the condition? Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades.
Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s. In the U. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up. Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until their teenage years or adulthood.
People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas pancreatitis , infertility and recurring pneumonia. People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory system and digestive system.
The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:. The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine.
Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:. If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with your doctor about testing for the disease. Consult a physician who is knowledgeable about CF. Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months. Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a change in the mucus color, lack of energy, weight loss, or severe constipation.
Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention. In cystic fibrosis, a defect mutation in a gene — the cystic fibrosis transmembrane conductance regulator CFTR gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene.
The type of gene mutation is associated with the severity of the condition. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis. However, they will be carriers and could pass the gene to their own children.
Because cystic fibrosis is an inherited disorder, it runs in families, so family history is a risk factor. Although CF occurs in all races, it's most common in white people of Northern European ancestry. Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs. However, further testing is required to confirm the diagnosis.
The sweat chloride test is the most commonly used test for diagnosing cystic fibrosis. It checks for increased levels of salt in the sweat.
The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current. Sweat is collected on a pad or paper and then analyzed. A diagnosis of cystic fibrosis is made if the sweat is saltier than normal. During a sputum test, the doctor takes a sample of mucus. The sample can confirm the presence of a lung infection.
It can also show the types of germs that are present and determine which antibiotics work best to treat them. A chest X-ray is useful in revealing swelling in the lungs due to blockages in the respiratory passageways. A CT scan creates detailed images of the body by using a combination of X-rays taken from many different directions.
These images allows your doctor to view internal structures, such as the liver and pancreas, making it easier to assess the extent of organ damage caused by cystic fibrosis. Pulmonary function tests PFTs determine whether your lungs are working properly.
The tests can help measure how much air can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body. Any abnormalities in these functions may indicate cystic fibrosis. Most transplant recipients report improved strength and energy, and freedom from symptoms such as coughing and shortness of breath. Chest therapy helps loosen the thick mucus in the lungs, making it easier to cough it up. A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest.
Cystic fibrosis can prevent the intestines from absorbing necessary nutrients from food. You may also need to take pancreatic enzyme capsules with every meal. Your doctor may also recommend antacids , multivitamins , and a diet high in fiber and salt.
The outlook for people with cystic fibrosis has improved dramatically in recent years, largely due to advances in treatment. Today, many people with the disease live into their 40s and 50s, and even longer in some cases. The resulting damage to the lungs can cause severe breathing problems and other complications. However, genetic testing should be performed for couples who have cystic fibrosis or who have relatives with the disease.
When you have cystic fibrosis, you can get pregnant and carry a baby to term.
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