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Cystic fibrosis (CF) is a genetic disease that causes significant damage to the lungs, digestive system, and other body organs.
Cystic fibrosis damages the cells responsible for the production of mucus, perspiration, and digestive fluids. Normally, these produced fluids are thin and slippery. In persons with cystic fibrosis, however, a faulty gene causes the secretions to become sticky and thick. Secretions, rather than acting as lubricants, clog tubes, ducts, and passages, particularly in the lungs and pancreas.
Despite the fact that cystic fibrosis is a progressive disease that necessitates daily care, patients with CF are frequently able to attend school and work. They frequently have a higher quality of life than prior generations of CF patients. Because of advancements in screening and therapy, patients with CF can now live into their mid- to late-thirties or forties, with some even living into their fifties.
WHAT ARE THE SYMPTOMS OF CYSTIC FIBROSIS?
Cystic fibrosis can be diagnosed in the United States within the first month of life, thanks to newborn screening. People born before newborn screening became available, however, may not be diagnosed until signs and symptoms of CF appear.
The signs and symptoms of cystic fibrosis differ depending on the severity of the condition. Even within the same person, symptoms can worsen or improve over time. Some people may not notice symptoms until they are in their twenties or thirties. People who are not diagnosed until they are adults typically have milder disease and are more likely to have atypical symptoms such as periodic attacks of an inflamed pancreas (pancreatitis), infertility, and chronic pneumonia.
Cystic fibrosis patients have a greater than normal level of salt in their sweat. When parents kiss their children, they often taste the salt. The majority of the other CF signs and symptoms impact the respiratory and digestive systems.
What are the respiratory signs and symptoms
Cystic fibrosis mucus is thick and sticky, and it clogs the tubes that carry air into and out of your lungs. This can result in symptoms such as:
- Coughing that produces thick mucus on a regular basis (sputum)
- Wheezing
- Intolerance to exercise
- recurring lung infections
- Inflammation of the nasal passages or a stuffy nose
- Sinusitis that recurs
What are the digestive signs and symptoms?
The thick mucus can also obstruct the tubes that transport digesting enzymes from the pancreas to the small intestine. Your intestines can’t absorb all of the nutrients in the food you eat if you don’t have these digestive enzymes. The end outcome is frequently:
- Smelly and greasy stools
- Inadequate weight gain and growth
- Blockage of the intestines, especially in newborns (meconium ileus)
- Chronic or severe constipation, which may entail repeated straining while attempting to pass feces, finally causing a portion of the rectum to protrude outside the anus (rectal prolapse)
WHAT ARE THE CAUSES OF CYSTIC FIBROSIS?
A flaw (mutation) in a gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, alters a protein that regulates the transport of salt in and out of cells in cystic fibrosis. As a result, thick, sticky mucus forms in the respiratory, digestive, and reproductive systems, and perspiration salt levels rise.
The gene can have a variety of defects. The severity of the illness is related on the type of gene mutation.
To be affected by the condition, children must inherit one copy of the gene from each parent. Children who inherit only one copy will not develop cystic fibrosis. They will, however, be carriers and may pass the gene on to their children.
HOW IS CYSTIC FIBROSIS DIAGNOSED?
Doctors often perform a physical exam, assess your symptoms, and run various tests to diagnose cystic fibrosis.
Screening and diagnosis of newborns
Every state in the United States now screens infants for cystic fibrosis. Early detection implies that treatment can begin right away.
In one screening test, a blood sample is examined for higher-than-normal amounts of immunoreactive trypsinogen (IRT), a substance secreted by the pancreas. Because of a premature birth or a difficult delivery, a newborn’s IRT levels may be elevated. As a result, more testing may be required to confirm a cystic fibrosis diagnosis.
Once a newborn is at least 2 weeks old, doctors may do a sweat test to determine if he or she has cystic fibrosis. A substance that causes sweating is administered to a tiny patch of skin. The sweat is then collected and tested to see if it is saltier than normal. Testing in a Cystic Fibrosis Foundation-accredited care center helps assure reliable results.
Doctors may also propose genetic tests to look for particular mutations in the gene that causes cystic fibrosis. In addition to evaluating IRT levels, genetic studies may be utilized to confirm the diagnosis.
Adults and older children testing
Cystic fibrosis screening may be advised for older children and individuals who were not checked at birth. If you experience recurring bouts of an irritated pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility, your doctor may recommend genetic and sweat tests for CF.
WHAT ARE THE TREATMENTS FOR CYSTIC FIBROSIS
Although there is no cure for cystic fibrosis, there are some therapies that can help improve symptoms and lower the risk of consequences.
Surgical procedures
- Bowel surgery: This is an emergency operation in which a portion of the bowel is removed. It may be performed to relieve a blockage in the bowels.
- Feeding tube: Cystic fibrosis can cause digestive problems and prevent you from absorbing nutrients from food. A feeding tube can be introduced through the nose or surgically placed directly into the stomach to provide sustenance.
- A double lung transplant: When medical management of your CF is no longer sufficient to maintain lung health and function, this treatment can improve the duration and quality of life for a person with CF.
Medications
- Antibiotics: Antibiotics may be prescribed by a doctor to treat a lung infection and prevent future infections. Antibiotics are typically administered as liquids, pills, or capsules. In more severe situations, antibiotic injections or infusions might be administered intravenously (through a vein).
- Mucus-thinning medications: These thin and make the mucus less sticky. They also aid in the removal of mucus from the lungs. This has a profound impact on lung function.
- Nonsteroidal anti-inflammatory drugs (NSAIDs): NSAIDs, such as ibuprofen (Advil), play a limited role in reducing airway inflammation. The Cystic Fibrosis Foundation recommends high-dose ibuprofen for children with CF aged 6 to 17 who have adequate lung function. Ibuprofen is not suggested for those above the age of 18 or those with more severe lung function problems.
- Bronchodilators: Bronchodilators help enhance airflow by relaxing the muscles around the tubes that deliver air to the lungs. You can use an inhaler or a nebulizer to take this medication.
- Cystic fibrosis transmembrane conductance regulator (CFTR) modulators: A class of medications known as CFTR modulators can improve the function of a faulty CFTR gene. These medications are a significant step forward in the treatment of cystic fibrosis because they target the function of the mutant CFTR gene rather than its clinical symptoms. All CF patients should get CFTR gene testing to see if they have one of the mutations approved for CFTR modulator medications. The majority of the published data are from patients under the age of 12 and with mild to severe CF lung disease.
Chest physical therapy
Chest treatment loosens the heavy mucus in the lungs, making coughing easier. It is usually done 1 to 4 times per day.
Placing the head over the edge of a bed and clapping with cupped hands down the sides of the chest is a frequent practice.
Mucus can also be removed using mechanical instruments. Among these are:
- a chest clapper, which simulates the effects of cupped hands clapping along the sides of the chest
- an inflatable vest that vibrates at a high frequency to aid in the removal of chest mucous
In-home care
CF can impair the intestines’ ability to absorb essential nutrients from diet.
If you have cystic fibrosis, you may require more calories per day than persons who do not have the disease. It’s also possible that you’ll need to take pancreatic enzyme pills with each meal.
Your doctor may also advise you to take antacids, multivitamins, and eat a high-fiber, low-salt diet.
If you have cystic fibrosis, it is critical that you:
- Drink plenty of fluids to help thin the mucus in your lungs.
- Exercise on a daily basis to aid in the removal of mucus from the airways. Walking, biking, and swimming are all excellent choices.
- When possible, avoid smoke, pollen, and mold. These irritants might aggravate symptoms.
- Get your influenza and pneumonia immunizations on a regular basis.
HOW CAN CYSTIC FIBROSIS BE PREVENTED?
If you or your partner has a close family with cystic fibrosis, you and your partner may decide to undertake genetic testing before having children. The test, which is done in a lab on a blood sample, can help you assess your chance of having a kid with CF.
If you are already pregnant and the genetic test indicates that your kid is at risk of cystic fibrosis, your doctor can perform additional testing on your growing child.
Not everyone is a candidate for genetic testing. Before you decide to be tested, you should consult with a genetic counselor about the psychological implications of the test results.
CONCLUSION
The prognosis for patients with cystic fibrosis has improved substantially in recent years, owing partly to breakthroughs in treatment. Today, many people with the condition live into their 40s and 50s, and in some circumstances, even beyond.
However, because there is no cure for cystic fibrosis, lung function will gradually deteriorate. The resultant lung damage might result in serious breathing difficulties and other issues.
