Cystic Fibrosis (Mucoviscidosis) is a disease that changes the way the human body produces mucus and the sweat. It affects the lungs, digestive system, and other body parts. A genetic defectiveness causes the illness.
People suffering from cystic fibrosis have problems with mucus thick and profuse salty sweating. Heavy and overly abundant mucus, difficult breathing, can also cause problems in the functioning of the pancreas and other internal organs. Also, it is a harmful excess of sodium in the body.
Cystic fibrosis is a serious disease that can be life-threatening, and it’s every individual case is different. As with other genetic diseases, early detection, it is important to allow for effective treatment of cystic fibrosis.
The causes of cystic fibrosis
Every human being has a gene called CFTR that makes a protein that controls the action of sodium in the body. The operation of the cystic fibrosis gene is incorrect. Defective gene is inherited from both parents, but if you have one defective copy of the gene, can pass it to children.
Problems with the CFTR gene may contribute to the difficulty in adopting optimal amounts of sodium and water into the cells, which makes the mucus produced by the body becomes too thick, and the sweat is too salty. There are also problems with obtaining sufficient quantities of oxygen or nutrients, or, the body precipitated them in abundance through the sweat.
In patients with cystic fibrosis was discovered more than 1,000 types of changes that are called mutations in the CFTR gene. In most cases, there is a mutation called Delta F508. Because the mutation is enormous diversity, there are a variety of symptoms and their treatment require different treatments.
The symptoms of cystic fibrosis
In small children affected by the disease, some of the concerns appear shortly after birth, such as salty taste on the skin. With age, there, however, appears other signs of disease as:
- coughing up of thick mucus,
- wheezing or shortness of breath,
- frequent infections, sinusitis, bronchitis, pneumonia;
- growths – polyps in the nose,
- abundant, extremely unpleasant smelling stools,
- problems with constipation, gas, abdominal pain,
- weight loss or failure to gain weight,
- reduced bone density,
- broad, rounded fingers and toes.
The symptoms above may also appear in teenagers and adulthood. Late diagnosis can mean a milder form of cystic fibrosis. Unfortunately, with time, the symptoms become more burdensome. In later periods may appear:
- inflammation of the pancreas,
- liver disease,
- cystic fibrosis related diabetes.
Diagnosis and treatment of cystic fibrosis
The earlier diagnosis, the greater the chance of avoiding many health problems. Is now possible to reconnaissance of the cystic fibrosis, before birth. The first examination enabling determination of the disease after birth is a blood test, but sometimes, it may not demonstrate disease. Another test is also the level of sodium in sweat. Among other tests can be distinguished:
- chest X-ray,
- pulmonary function tests and checking oxygen concentrations in the blood – when there are problems with breathing,
- measurement of lung volumes,
- pulse oximetry,
- test of mucus.
Unfortunately, there is no cure for cystic fibrosis, but there are many treatments that help to alleviate symptoms, including improved the breathing comfort, reduce the risk of infection and stomach problems, or facilitate the absorption of nutrients.
Are used, among other treatments:
- inhaled as dornase alfa, albuterol, saline, antibiotics or steroids to thin mucus, purifying lung and combat infection,
- Ibuprofen type drugs to fight inflammation and reduce pulmonary edema.
- in the case of correct functioning of the pancreas are used pills enzymes help digest fats and proteins, as well as supporting the absorption of vitamins from the food
- supplement of vitamin A, D and E, which help replenish the missing nutrients,
- oxygen therapy – in cases of severe lung diseases.
Among the treatments used in extremely severe cases are also complicated lung transplants. Research on new more efficient ways of treating cystic fibrosis continuously in progress.