Cystic fibrosis causes

The cause of the disease is a mutation in a gene MWTR. It regulates the entry and excretion of water and salts from cells. Due to the thickening of mucus, for example, in the respiratory tract, bacteria and other particles are not eliminated. Cystic fibrosis was previously thought to affect only the lungs and digestive system, but today it has been proven to affect all organs.

The disease exists in different forms and manifests itself in different degrees of severity depending on the type of gene mutation.

Symptoms

Screening is mandatory for newborns, so most often cystic fibrosis is detected in the first few days of life. However, there are cases of the disease developing in childhood, adolescence or adulthood.

What are the symptoms:

• coughing up phlegm;
• shortness of breath;
• frequent respiratory infections;
• maxillary sinusitis;
• diabetes;
• cirrhosis of the liver.

Signs of the disease may be complemented if other organs and systems are affected by the changes.

Diagnosis of cystic fibrosis

Given the incurable and hereditary nature, diagnosis is made for newborns on the 4th day of life. A blood sample is drawn from the heel. Additionally, a sweat sample may be done – the disease causes excessive salt concentration on the skin.

Since the disease is quite rare, it requires a highly qualified doctor who will competently make a plan of examinations and can recognize cystic fibrosis. In Israel at a clinic “MDI is staffed by experienced pulmonologists. We utilize state-of-the-art protocols and are very attentive to each case.

What is the prognosis for a person with cystic fibrosis

Today, the average life expectancy with cystic fibrosis is 30-40 years. The prognosis depends on the type of mutation, which organs are affected, and how effective the therapy is.