Cystic fibrosis

Cystic fibrosis

Description Cystic Fibrosis

Cystic fibrosis is a serious medical and despite advances in recent years, an incurable disease. Moreover, it is relatively common, occurring at a rate of one patient per 3000 births (1: 3000), occurs mostly in whites (blacks and Asians are barely affected).

The disease is caused by a disorder of the transfer of ions and salts thereof through the cell membrane. This disorder is caused by a genetic mutation of a gene that is responsible for the transporter.
Each person has for this transporter two genes in order to condition it is necessary that both genes are “bad.” This indicates that the bearer – a carrier (carrier – bearer is a person who is not sick, that is “bad” only one of the two genes) such mutations in our population every twenty-fifth person.

Disorders transport through the membrane is most pronounced in two systems – respiratory (lung) and gastrointestinal (intestinal damage).

Lungs healthy man are constituted pulmonary alveoli (alveolar) having inner layer covered excrement (surfactant). This mucus is very thin and delicate, it helps cellars rebound while allowing expectoration. In patients with cystic fibrosis is the abnormal mucus – denser, because breathing islabored for patients. The second problem is the removal of bacteria and dust particles. These can not be removed sufficiently rapidly and causing chronic respiratory infection ( ). Repeated infections cause lung damage, which then fail.

The disease manifests itself in other systems, the production of abnormal – thick mucus can causeintestinal obstruction.

Damaged organs in cystic fibrosis are therefore lungs, intestine, salivary glands, pancreas and male infertility causes cystic fibrosis. Despite the fact that the disease itself is not curable, patients live for today and 3Oti years of age, which is compared with the earlier deaths in children a big success and we can expect prolonging patients’ age.


Risk factors for cystic fibrosis

The risk is mainly associated with being a single parent is a carrier of the mutated gene (one gene has the mutated gene pair, he then uses the healthy gene, so not sick). In such a case, the threatened 50% probability that he will pass bad gene to their child. If the child then receives and from the other parent mutated gene ill – will in fact have both genes are “bad.”


Preventing cystic fibrosis

The only prevention is monitoring the newborn. Babies who are expected this disease are tested.They make them sweat test and genetic testing.

Sweat testing is performed using a treatment that induces sweating (pilokarpie). Sweat is then tested for an excessive content of chloride and sodium, because an increased content of these two substances is one of the symptoms that can be quickly and easily verified.

Another option is to test couples to gene mutations that cause cystic fibrosis. Parents are tested first (sometimes only one). Only if the mutation confirmed by both parents, it is possible to test germ. Tested positive parents have the possibility of in vitro fertilization ( “test tube). Embryo is before it is placed in the uterus, testing for the presence of genes that cause cystic fibrosis. If the presence of both genes is established, it is eliminated and the whole procedure is repeated. Waiting to pass on a combination of genes where one or both parents transfer “healthy” version of the gene.


Signs and symptoms of cystic fibrosis

The most important manifestation of cystic fibrosis are undoubtedly very frequent respiratory infections. Thus, the disease is often accompanied by Still in a cough. These repeated infections cause great damage to lung tissue, which can end lung failure and subsequent death. From the tissue damage may develop a pneumothorax (air in the thoracic cavity), the air into the chest cavity gets punctured lung tissue.

Flag that is frequently used in the diagnosis of cystic fibrosis, the content of sodium and chlorinein sweat and saliva.

This disease affects the entire body.
In addition to the lungs interferes in the function of the pancreas, bowel (constipation anddiarrhea), endocrine organs, and can cause infertility.

Sick achieves smaller, usually appear with him and called. Clubbing.

For babies to meet with enlargement of the liver, spleen, and slow weight gain. Small weight increment is also observed in elderly patients, this is due to impaired absorption through the intestinal wall.


Treatment of Cystic Fibrosis

Since the disease itself is incurable, the only way to protect the patient is prevention.

It’s all about regular inhalation and respiratory rehabilitation. Exercise improves airway patency, along with diluting and refining lung mucus by inhalation enables cleaning the airways and reducethe risk of infection. If there is already a serious disability, patient gets home oxygen bottle. This method is called – oxygen therapy.

But if the infection still occurs, it should be as soon as possible to suppress the high doses of antibiotics, which are given intravenously (into a vein).
Extreme treatment option is then lung transplantation.

Because the pancreas is affected and it is necessary to replace some digestive enzymes drugs, as well as to treat diabetes, insulin.

Deterioration permeability of the intestinal wall must be compensated by increased intake of vitamins.


Complications of cystic fibrosis

Complications arise from the fact that organs are affected. They are frequent lung diseases, heart, intestines, pancreas and salivary gland diseases or endocrine origin.

Patients also have problems absorbing nutrients and vitamins, so they are very thin and can suffer from various disorders, vitamin deficiency (vitamin deficiency).

Prolonged infection debilitating that exhausts and easily subject to various diseases.

Other names: cystic fibrosis, CF

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