Mucoviscidosis – What is it, Symptoms and Treatments!
Mucoviscidosis – What it is, Symptoms and Treatments of this condition. Furthermore, Mucoviscidosis is a serious genetic condition that affects the respiratory and digestive system. This damage usually results from a buildup of thick, sticky mucosa in the organs .
Mucoviscidosis affects the cells that produce sweat, mucus, and digestive enzymes . Typically, these secret fluids are thin and smooth like olive oil. They lubricate various organs and tissues, preventing them from becoming too dry or infected.
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The most commonly affected organs include:
- Lungs
- pancreas
- Liver
- intestine
In people with Mucoviscidosis , however, a faulty gene causes the fluids to become thick and sticky. Instead of acting as a lubricant, fluids clog ducts, tubes and passages in the body. This can lead to life-threatening problems, including infections , respiratory failure, and malnutrition.
It is critical to receive treatment for Mucoviscidosis immediately. Early diagnosis and treatment are key to improving quality of life and prolonging lifespan. Approximately 1,000 people are diagnosed with Mucoviscidosis each year in the United States.
Although daily care is required for people with Mucoviscidosis , they can still lead a relatively normal life and work or attend school. Screening tests and treatment methods have improved in recent years, many people with Mucoviscidosis can now live into their 40s and 50s.
Symptoms of Mucoviscidosis: Symptoms of Mucoviscidosis can vary depending on the person and the severity of the condition. The age at which symptoms develop may also differ. Symptoms may appear in childhood, but for other children, symptoms may not start until after puberty or even later in life. As time passes, symptoms associated with the disease may improve or worsen.
One of the first signs of Mucoviscidosis is a strong salty taste on the skin. Parents of children with Mucoviscidosis mentioned tasting this saltiness when kissing their children. Other symptoms of Mucoviscidosis result from complications that affect:
- The lungs;
- The pancreas;
- The liver;
- Other glandular organs .
Respiratory Problems: The thick, sticky mucus associated with Mucoviscidosis often blocks the passages that carry air in and out of the lungs. This can cause the following symptoms:
- Wheezing;
- persistent cough that produces thick mucus or phlegm;
- Shortness of breath, especially when exercising;
- recurrent lung infections;
- Stuffy nose;
- Muffled bells.
Digestive Problems: Abnormal mucus can also plug the channels that carry enzymes produced by the pancreas to the small intestine. Without these digestive enzymes , the intestine cannot absorb necessary nutrients from food. This can result in:
- Fatty and smelly stools;
- Constipation;
- Nausea;
- Swollen abdomen;
- loss of appetite;
- Poor weight gain in children;
- Late growth in children.
Causes of Mucoviscidosis: Mucoviscidosis occurs as a result of a defect in the so-called “ Mucoviscidosis transmembrane conductance regulator” gene . This gene controls the movement of water and salt in and out of your body’s cells. A sudden mutation, or change, in the gene causes your mucus to become thicker and stickier than it should be. This abnormal mucus builds up in various organs throughout the body, including:
- intestine
- pancreas
- Liver
- Lungs
- It also increases the amount of salt in your sweat.
Many different defects can affect the CFTR gene. The type of defect is associated with the severity of Mucoviscidosis . The damaged gene is passed on to the child from its parents. To get Mucoviscidosis , a child must inherit one copy of the gene from each parent.
If they only inherit one copy of the gene, they will not develop the disease. However, they will be a carrier of the defective gene, meaning they can pass the gene on to their own children.
Risk Factors for Mucoviscidosis: Mucoviscidosis is more common among Caucasians of Northern European descent. However, it is known to occur in all ethnic groups. People who have a family history of Mucoviscidosis are also at higher risk because it is an inherited disease .
Diagnoses of Mucoviscidosis: In the United States, all newborns are screened for Mucoviscidosis . Doctors use a genetic test or blood test to check for signs of the disease. Genetic testing detects whether your baby has a defective CFTR gene. The blood test determines whether a baby’s pancreas and liver are working properly. Other diagnostic tests that may be performed include:
- Immunoreactive trypsinogen test;
- Sweat chloride test;
- Sputum test;
- Chest X-ray;
- Computed tomography;
- Pulmonary function tests.
Prevention of Mucoviscidosis: Mucoviscidosis can not be prevented. However, genetic testing should be performed for couples with Mucoviscidosis or with relatives with the disease. Genetic testing can determine a child’s risk of Mucoviscidosis by testing blood or saliva samples from each parent. Tests may also be performed on you if you are pregnant and concerned about your baby’s risk.
Mucoviscidosis Treatments: While there is no cure for Mucoviscidosis , there are several treatments available that can help relieve symptoms and reduce the risk of complications.
Medications: Antibiotics may be prescribed to get rid of a lung infection and prevent another infection from occurring in the future. They are usually given as liquids, tablets or capsules. In more severe cases, injections or infusions of antibiotics may be given intravenously or through a vein.
- Mucus -kneading medications make the mucus thinner and less sticky. They also help you to cough up mucus so it leaves your lungs. This significantly improves lung function.
- Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and indomethacin can help reduce any pain and fever associated with Mucoviscidosis .
- Bronchodilators relax the muscles around the tubes that carry air to the lungs, which helps increase airflow. You can take this medication through an inhaler or a nebulizer.
- Bowel surgery is emergency surgery that involves removing a section of the bowel. It can be performed to relieve a blockage in the bowels.
- Mucoviscidosis can interfere with digestion and prevent the absorption of nutrients from food. A feeding tube to provide nutrition can be passed through the nose or surgically inserted directly into the stomach.
- A lung transplant involves removing a damaged lung and replacing it with a healthy one, usually from a deceased donor. Surgery may be necessary when someone with Mucoviscidosis has a severe breathing problem. In some cases, both lungs may need to be replaced. This can lead to serious complications after surgery, including pneumonia.
Surgical Procedures: Several surgical procedures may be necessary to try to reverse Mucoviscidosis . Among them the most common are:
Physical Therapy on the Chest: Chest therapy helps to loosen the thick mucus in the lungs, making coughing easier . It is usually performed one to four times a day. A common technique involves placing your head over the edge of a bed and clapping your hands with your hands placed along the sides of the chest. Mechanical devices can also be used to clear mucus . These include:
- A chest valve, which mimics the effects of clapping hands placed along the sides of the chest;
- An inflatable vest, which vibrates at a high frequency to help remove mucus from the chest.
Home Care: Mucoviscidosis can prevent the intestines from absorbing necessary nutrients from food. If you have Mucoviscidosis , you may need up to 50 percent more calories a day than people who don’t have the condition. You can also take pancreatic enzyme capsules with each meal. Your doctor may also recommend antacids, multivitamins, and a diet high in fiber and salt.
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If you have Mucoviscidosis, you should do the following: