The changed gene
CF affects the cells that make mucus, sweat and digestive juices. These fluids, also called secretions, are usually thin and slippery to protect the body's internal tubes and ducts and make them smooth pathways. But in people with CF, a changed gene causes the secretions to become sticky and thick. The secretions plug up pathways, especially in the lungs and pancreas.
CF gets worse over time and needs daily care, but people with CF usually can attend school and work. They often have a better quality of life than people with CF had in past decades. Better screening and treatments mean that people with CF now may live into their mid- to late 50s or longer, and some are being diagnosed later in life.
Symptoms
Because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the symptoms of CF show up.
CF symptoms vary, depending on which organs are affected and how severe the condition is. Even in the same person, symptoms may worsen or get better at different times. Some people may not have symptoms until their teenage years or adulthood.
People who are not diagnosed until adulthood usually have milder symptoms and are more likely to have symptoms that aren't typical. These may include repeated bouts of an inflamed pancreas called pancreatitis, infertility and repeated bouts of pneumonia.
People with CF have a higher than usual level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other symptoms of CF affect the respiratory system and digestive system.
Respiratory symptoms
In cystic fibrosis, the lungs are most commonly affected. The thick and sticky mucus that happens with CF clogs the tubes that carry air in and out of the lungs. This can cause symptoms such as:
- A cough that won't go away and brings up thick mucus.
- A squeaking sound when breathing called wheezing.
- Limited ability to do physical activity before tiring.
- Repeated lung infections.
- Irritated and swollen nasal passages or a stuffy nose.
- Repeated sinus infections.
Digestive symptoms
The thick mucus caused by cystic fibrosis can block tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines can't completely take in and use the nutrients in food. The result is often:
- Foul-smelling, greasy stools.
- Poor weight gain and growth.
- Blocked intestines, which is more likely to happen in newborns.
- Ongoing or severe constipation. Straining often while trying to pass stool can cause part of the rectum to stick out of the anus. This is called a rectal prolapse.
When to see a doctor
If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with your healthcare professional about testing for the condition. Make an appointment with a doctor who has skills and experience in treating CF.
CF requires regular follow-up with your healthcare professional, at least every three months. Call your healthcare professional if you have 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.
Get medical care right away if you're coughing up blood, have chest pain or trouble breathing, or have severe stomach pain and bloating.
Call your local emergency number or go to the emergency department at a hospital if:
- You're having a hard time catching your breath or talking.
- Your lips or fingernails turn blue or gray.
- Others notice that you're not mentally alert.
Causes
In cystic fibrosis, a change in a gene causes problems with the protein that controls the movement of salt and water in and out of cells. This gene is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It affects the cells that make mucus, sweat and digestive juices. When the CFTR protein doesn't work as it should, the result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as extra salt in sweat.
Changes in the CFTR gene that cause CF are divided into several different groups based on the problems they cause. Different groups of gene changes affect how much CFTR protein is made and how well it works.
To have cystic fibrosis, children must get one copy of the changed CFTR gene from each parent. If children get only one copy, they won't develop CF. But they will be carriers and could pass the changed gene to their own children. People who are carriers may have no symptoms of CF or a few mild symptoms.
Risk factors
Because cystic fibrosis is a condition passed down in families, family history is a risk factor.
CF occurs in all races, but it's most common in white people of Northern European ancestry. Because it's less common in people who are Black, Hispanic, Middle Eastern, Native American or Asian, this might lead to a much later diagnosis.
A late diagnosis may cause worse health issues. Early and effective treatment can improve your quality of life, prevent complications and help you live longer. If you're a person of color and have symptoms that could be CF, talk to your healthcare professional so that you can get tested for CF.
Complications
Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.
Prevention
If you or your partner have close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. Testing done in a lab on a sample of blood can help find out your risk of having a child with CF.
If you're already pregnant and the genetic test shows that your baby may be at risk of CF, your healthcare professional can do other tests on your unborn child.
Genetic testing isn't for everyone. Before you decide to be tested, talk with a genetic counselor about the mental health impact the test results might have. - Source: Mayoclinic.org; F: Namibia Alliance for Rare Diseases; E: [email protected];
+264 81 142 3543.
Watch: https://q.my.na/U6HQ
Did you know?
Genetic
People with cystic fibrosis typically have two copies of the defective CFTR gene – one from each parent.
