May~ Cystic Fibrosis Awareness
What Is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. People who have cystic fibrosis have a faulty protein that affects the body’s cells, tissues, and the glands that make mucus and sweat.
Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. People who have cystic fibrosis make thick, sticky mucus that can build up and lead to blockages, damage, or infections in the affected organs. Inflammation also causes damage to organs such as the lungs and pancreas.
Some people who have cystic fibrosis have few or no symptoms, while others experience severe symptoms or life-threatening complications. Symptoms of cystic fibrosis depend on which organs are affected and the severity of the condition. The most serious and common complications of cystic fibrosis are problems with the lungs, also known as pulmonary or respiratory problems, which may include serious lung infections. People who have cystic fibrosis often also have problems maintaining good nutrition, because they have a hard time absorbing the nutrients from food. This is a problem that can delay growth.
Your doctor may recommend treatments to improve lung function and prevent or manage complications. Early treatment can improve your quality of life and help you live longer.
Symptoms
Symptoms of cystic fibrosis depend on which organs are affected and the severity of the condition. Most people who have cystic fibrosis have noticeable symptoms. Some people have few or no symptoms, while others experience severe symptoms or life-threatening complications. Symptoms may also change over time.
Cystic fibrosis most commonly affects the lungs. Some people who have cystic fibrosis may have wheezing and a cough that may produce mucus or blood.
Other symptoms depend on the organs affected and may include:
-Blockage of the intestine in a baby soon after birth
-Clubbing of fingers and toes due to less oxygen getting to the hands and feet
-Fever, which may include night sweats
-Gastrointestinal symptoms, such as severe abdominal pain, chronic diarrhea, or constipation
-jaundice, or yellow skin, for an abnormally long time after birth
-Low body mass index (BMI) or being underweight
-Muscle and joint pain
-Delayed growth or puberty
-Salty skin and saltier than normal sweat
-Sinus infections
When to call the doctor
Cystic fibrosis may have serious complications. Call your doctor right away if you believe you have any of the following:
-Pulmonary exacerbation involves a worsening of lung symptoms, such as more coughing or wheezing, chest congestion, and a change in mucus color. You may also have weight loss, a poor appetite, or fever.
-Coughing or spitting up of blood may be a sign that an artery has broken and is bleeding into the airway.
-Sudden shortness of breath or chest pain may be a sign of a pneumothorax, or collapsed lung.
Diagnosis
Your doctor may diagnose cystic fibrosis based on your symptoms and results from certain screening tests, such as genetic and sweat tests.
Screening for cystic fibrosis
Genetic testing may be performed to look for carriers, as well as to screen relatives of people who have cystic fibrosis. Genetic testing may also be used as prenatal screening tool to look for a mutated CFTR gene. All newborns in the United States are now screened for cystic fibrosis. Since universal screening for cystic fibrosis began relatively recently, there are still young people and adults who have not been screened.
Carrier screening to detect CFTR mutations
Genetic testing can tell you if you carry a mutation of the CFTR gene. This is called carrier testing. People who have inherited a mutation of the CFTR gene from one parent are cystic fibrosis carriers. People who have inherited a mutation of the CFTR gene from both parents will have cystic fibrosis. Learn more about how cystic fibrosis is inherited. Genetic testing looks at your DNA from a blood or saliva sample, or cells from the inside of your cheek.
The standard test to check for possible cystic fibrosis carriers looks for 23 of the most common disease-causing gene mutations. If you have a positive test, there is a 99% chance you are a carrier. However, if you have a negative test, there is still a small chance that you could carry a CFTR mutation that did not show up on the test.
Siblings of a person who has cystic fibrosis may want to be tested for cystic fibrosis whether or not they have symptoms. Other relatives, such as first cousins and half-siblings, may be tested if they have symptoms, or if the family is concerned that the individual may have cystic fibrosis.
After a positive screening test, the diagnosis should be confirmed with further testing.
Prenatal screening
Couples who are planning to have children may want to be tested to see if they are cystic fibrosis carriers. Genetic testing, such as the carrier screening described above, may be done before or during pregnancy. Often, the mother is tested first. However, if you are already pregnant, you and your partner may choose to be tested at the same time. If the father has a family history of cystic fibrosis, he may be tested first. Similar to standard genetic testing, prenatal screening uses a sample of blood, saliva, or cells from the inside of your cheek to check your DNA.
If one partner is a carrier for a cystic fibrosis gene mutation, then the next step is to test the partner if this has not been done. If both parents are cystic fibrosis carriers, then prenatal diagnostic testing may be performed to see whether your unborn baby has cystic fibrosis or is a carrier.
Newborn screening
When a child has cystic fibrosis, it is very important to diagnose it early to help prevent complications. Newborn screening for cystic fibrosis is performed during a baby’s first 2 to 3 days of life. A few drops of blood from a heel prick are placed on a special card and analyzed in labs.
The type of newborn screening that is performed varies from state to state. Every state and the District of Columbia begins with a blood test to check for levels of a chemical made by the pancreas called immunoreactive trypsinogen (IRT). In people who have cystic fibrosis, IRT tends to be high. However, most babies with high levels of IRT do not have cystic fibrosis. IRT may also be high if the baby is premature, had a stressful delivery, or is a carrier of cystic fibrosis.
Some states test only IRT for cystic fibrosis newborn screening. Other states test IRT and also perform DNA testing. In states that test both IRT and DNA, if IRT is high, then the hospital will test the baby’s DNA for some of the gene mutations that cause cystic fibrosis.
After a positive screening test, the diagnosis should be confirmed with further testing.
Sweat test
A sweat test checks for high levels of chloride in your sweat. The sweat test is the standard test for diagnosing cystic fibrosis. It may be used if you have symptoms that may indicate cystic fibrosis or to confirm a positive diagnosis from a screening of your newborn baby. A normal sweat chloride test alone does not mean you do not have cystic fibrosis. Lower levels of chloride may indicate the need for further testing to diagnose or rule out cystic fibrosis.
For more information: https://www.nhlbi.nih.gov/health/cystic-fibrosis
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