This is how the most common genetic diseases are diagnosed and treated

Cystic fibrosis: Diagnosis and treatment of this most common genetic disease

In Spain, more than 2,500 people suffer from cystic fibrosis. It is a chronic genetic disease that, due to its characteristics, represents a serious health problem.


It is also a degenerative pathology, and although we may think of it as affecting only the lungs, it also affects the digestive and reproductive systems.

this cystic fibrosis This appears to be because a change in a gene on chromosome 7 causes changes in the protein responsible for regulating the exchange of chloride and sodium within the cell, causing the secretions to become thicker.

When the secretions thicken, the result is that they inflame and damage areas of the lungs, liver, pancreas, and reproductive system.

Additionally, as the Spanish Cystic Fibrosis Federation explains, “The thickness of the mucus makes it easier for bacteria or small organisms to accumulate, enter the lungs and cause respiratory infections.”

How does it spread?

The first thing to understand is that some people develop the disease and others are simply carriers of the gene that causes it. The Spanish Pulmonary Society (SEPAR) defines cystic fibrosis as an “autosomal recessive” genetic disease. This means that to inherit it from a parent, both parents must have the defective gene.

Minors hospitalized with cystic fibrosis

If both a normal gene and a defective gene are inherited, the individual does not have the disease but is a carrier and can pass it on to his or her offspring. This is no small matter, because in our country, 1 in 30 people may be an asymptomatic carrier.

How to diagnose?

In 2015, cystic fibrosis was included in newborn screening tests, specifically the heel test. This fact represents an important milestone that allows:

  • Delay the onset of symptoms

  • Improving disease evolution

  • Improve patients’ quality of life.

91% of cases are detected through these screening tests.

Symptoms of cystic fibrosis

The reality of this infection is that in addition to the known pulmonary involvement, many organs of the patient are affected (lungs, heart, stomach, pancreas…).

As a result, the problems suffered by patients are multiple, SEPAR explains:

  • Recurrent respiratory infections with coughing and large amounts of mucus leading to progressive deterioration of the lungs.

  • Diarrhea and greasy stools occur due to the inability to fully absorb fat.
  • Salty sweat is sometimes accompanied by dehydration.

  • Male infertility.

  • intestinal obstruction.

  • diabetes.
  • Sinusitis.

  • Cirrhosis of the liver.

Cystic fibrosis mainly affects the lungs and digestive system due to the thickening of the water content in the secretions.

Treatment is complex but can improve quality of life

This is an incurable pathology, but there are treatments, although treatments are complex because the disease manifests differently in each patient.

Regardless, these treatments, if followed properly and rigorously, can greatly improve a patient’s quality of life. In the field of pharmacology, the most commonly used drugs are:

  • antibiotic

  • Bronchodilators

  • corticosteroids

  • saline serum

  • Trypsin

  • vitamins

  • insulin.

But in addition to medications, there are other treatments that are equally important for people with cystic fibrosis, among which we must emphasize respiratory physiotherapy, which is essential to eliminate excess mucus and reduce the number of respiratory infections.

The work of a physical therapist is also important in preventing chest and spinal deformities that sometimes accompany lung damage.

There is also nutrition, monitoring high-calorie and high-protein diets and isotonic drinks on a case-by-case basis for each patient.

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