Cystic fibrosis

What is cystic fibrosis?

Cystic fibrosis is a chronic, hereditary, and degenerative disease that causes thick mucus to build up in the lungs and other vital organs. A defective gene causes the secretions to become sticky, plugging up the airways and gathering bacteria and other organisms that cause frequent chest infections and damage the lungs and pancreas.

It is a disease with a high case-fatality rate because it has no cure, and life expectancy currently is at 35-40 years. However, 90 % of cases are diagnosed through the newborn blood spot test done on babies 48 hours after birth. Therefore, cystic fibrosis can be identified and treated from the start.

Who is affected by cystic fibrosis?

In Spain, 2,500 persons are diagnosed with cystic fibrosis, and it is one of the most common chronic pulmonary conditions in children and teenagers.

Individuals can be carriers of the gene that causes cystic fibrosis but are considered “healthy” because they do not develop the symptoms. To develop cystic fibrosis, the individual has to inherit two defective genes.

Cystic fibrosis symptoms

Individuals who develop the disease can show symptoms from birth or develop symptoms as teenagers or as adults. Some conditions can worsen as the disease progresses.

The most common symptoms are:

  • Pneumonia and recurring chest infections.
  • A persistent cough that produces thick mucus.
  • Difficulty putting on weight and growing.
  • Abnormally high salty skin or sweat.
  • Pancreas swelling and digestive problems.
  • Abdominal pain because of increased gas.
  • Constipation or diarrhoea.

This condition is diagnosed through genetic and sweat tests to determine if the concentration of chloride is too high, a result that would confirm cystic fibrosis.

Cystic fibrosis treatment

Cystic fibrosis does not have a cure, but treatments have progressed in recent years, and the life expectancy of patients has grown. However, it is a condition that requires thorough medical monitoring, given its complexity.

Recommended basic treatments include mucus-thinning drugs to help cough up the mucus, inhaled medication to open the airways and ease breathing, antibiotics to treat chest infections, oxygen therapy, aerosol therapy, and, as a last option, a lung transplant.

In addition, having healthy and preventive habits, such as getting vaccinated against respiratory illnesses, improves the quality of life of patients.

Oxygen therapy

It consists of administering oxygen at a higher concentration than it is found in the air (21 %) to treat hypoxia.
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Aerosol therapy

It is a therapy that delivers medicines by inhaling so that they quickly reach the lungs.
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