Overview
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. 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.S., 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 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.
If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine 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 cystic fibrosis, your doctor can conduct additional tests on your developing child.
Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.
Feb. 04, 2020
Read more from the original source:
Cystic fibrosis - Symptoms and causes - Mayo Clinic
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