Cystic fibrosis (CF) is a genetic disease that affects the lungs, digestive system, and other organs. It develops when the protein that produces mucus does not function as usual. This results in thick, sticky mucus that can damage or obstruct organs. Show There is currentlyno cure, but treatments can help manage the condition, relieve the symptoms, and reduce the risk of complications. This improves a person’s life expectancy and quality of life. This article explores the causes and symptoms of CF. It also looks at the treatments, risk factors, outlook, and how doctors diagnose the condition. What is CF?Share on PinterestVioletaStoimenova/Getty Images CF is a genetic disease thatmainly affectsthe lungs and digestive system. It can also cause complications, such as liver disease and diabetes. People with CF have agenetic mutationin a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). This gene controls the CFTR protein.
The genetic mutation mean that the CFTR protein does not function as it would in a healthy body. This malfunctioning causes the body to produce mucus that is thicker and stickier than usual. It can block the airways, causing breathing difficulties and severe lung infections. The genetic mutation may also interfere with pancreatic function by preventing enzymes from breaking down food effectively. This can cause digestive problems that may lead to limited growth and malnutrition. CF is a chronic condition with potentially life threatening complications. However, treatments can improve the quality and duration of life. Symptoms CFmost commonlyaffects the lungs, causing respiratory symptoms, such as:
Also, in people with CF, the mucus that obstructs lung function creates optimal living conditions for pathogens. As a result, a person has an increased risk of lung infections, such as bronchitis and pneumonia. CF symptoms can vary from person to person, depending on the affected organs. Some other possible symptoms and complications are:
The obstruction of the pancreas that can lead to malnutrition and limited growth is also linked to anincreased riskof diabetes and osteoporosis. Treatment Treatments can help manage symptoms and improve the quality of life. The best combination of approaches depends on a person’s symptoms. Below, we describe some treatment options. Airway clearanceIt is crucial to loosen and clear mucus from the lungs to ease breathing and minimize the risk of infections. Airway clearance techniques can help. As a2019 reviewpointed out, people with CF may use these techniques daily. The review did not find any particular method more effective than another. Some airway clearance techniques that a person might try include:
MedicationsCertain medications can help alleviate CF symptoms and otherwise manage the condition. Examples include:
Infection managementIf an infection is bacterial, antibiotics can help treat it. Also, a person may be able toreduce their riskby:
Other treatment methodsBelow are some other ways of managing CF: Vascular access devicesThese implanted devices deliver medication directly into the bloodstream, and they may be suitable for people who require long-term access to IV treatment. Having one can make managing CF more efficient and less intrusive. The device may consist of a long, thin tube inserted into a vein in the arm and secured to the skin with stitches or adhesive. Another option is a port, a device that a surgeon implants under the skin. The port connects to an IV tube when a person needs IV medication. CFTCR modulatorsThese drugswork to correctthe function of the CFTR protein. Two approved CFTR modulators are ivacaftor (Kalydeco) and lumacaftor/ivacaftor (Orkambi). Kalydeco may be suitable for children 6 years and older who have an additional eight CF gene mutations. Orkambi may be suitable for those between 6 and 11 years old with a F508del genetic mutation. Nutritional therapy for digestive symptomsCF can affect digestive function and nutrient absorption, so receiving professional dietary guidance is key. A registered dietitian may recommend:
Causes The CFTR gene contains codes for producing a protein that controls the flow of salt and water across cell membranes. In someone with CF, this gene does not function as usual, leading to low levels of salt and water outside the cells. The result is unusually thick, sticky mucus. If a person has only one copy of the malfunctioning gene, they do not develop CF but they “carry” it. For a person to develop CF, both biological parents must carry the malfunctioning gene. According to the National Organization for Rare Disorders, if two carriers have a child, there is a:
Over10 million peoplein the United States are likely to be carriers of CF, and many are unaware. Risk factorsRisk factorsfor CF include:
CF test and diagnosisSome symptoms of CF may appear shortly after birth. But the symptoms of mild cases may not present until adulthood. More than 1,000 people in the U.S. receive a CF diagnosis each year, with 75% receiving a diagnosis by the age of 2 years. All newbornsin the U.S. undergo screening for CF. If an infant has it, beginning treatment right away can help delay or prevent complications. The screening involves taking asmall blood samplefrom the heel and sending it off to a laboratory for analysis. People can undergo screening to check if they carry the CF genetic mutation. A healthcare professional takes a blood, saliva, or cheek cell sample for DNA testing. People may have this screeningbefore or duringpregnancy. Prenatal screening involves taking a sample of the amniotic fluid to check for the genetic mutation in the fetus. The standard genetic test for CF checks for the23 most commongene mutations. There are over 1,700 mutations of the CFTR gene, however. Prevention There isno wayto prevent CF. If people are planning to have a child and are CF carriers, they may discuss this with a genetic counselor and consider their options. Outlook The Cystic Fibrosis Foundation reports that life expectancy and quality of life continue to improve for people with the condition. Life expectancy varies from one person to the next and can depend on the severity of the disease.Research from 2021estimates that people with CF may reach their 40s before requiring a lung transplant. The median survival rate after lung transplantation is 8.5 years. Receiving treatment as soon as possiblecan helpextend life, improve the quality of life, and prevent complications. When to contact a doctorConsult a doctor about any symptoms of CF.
Summary CF is a genetic disorder linked to a mutation in the CFTR gene. This creates irregular proteins that cause mucus to become unusually thick and sticky. CF primarily affects the lungs, though it can also affect the digestive system and other parts of the body. Although there is no cure, treatments can help clear the mucus from the airways, aid digestion, and reduce the risk of complications. Continual advances in treatment improve life expectancy and the quality of life for people with CF. It is crucial to receive appropriate treatment as soon as possible. How does cystic fibrosis cause respiratory infections?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.
Why does cystic fibrosis increase risk of infection?People with CF are susceptible to infections from bacteria, viruses, and fungi because abnormally thick, sticky mucus traps these germs in the airways. They also are prone to infections because their mucus and airway liquid does not have the same infection-fighting properties as normal mucus.
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