Here’s how to diagnose and treat the most common genetic disorders

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

It’s also a degenerative pathology, and while we might think of it as affecting only the lungs, it can also affect the digestive and reproductive systems.

this cystic fibrosis This occurs due to changes in a gene on chromosome 7 that lead to changes in the protein responsible for regulating the exchange of chloride and sodium within the cell, causing the secretions to become sticky.

When the secretions thicken, the result is inflammation and destruction of the lungs, liver, pancreas, and reproductive system areas.

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

How is it spread?

The first thing to be clear is that some people get the disease, while others only carry the gene that causes it. The Spanish Respiratory Society (SEPAR) defines cystic fibrosis as an “autosomal recessive” hereditary disease. This means that in order to inherit the gene from both parents, both parents must have the defective gene.

If both the normal gene and the defective gene are inherited, the individual does not have the disease but is a carrier, which can be passed on to offspring. This is not a trivial matter, because in our country, 1 in 30 people may be an asymptomatic carrier.

How is it diagnosed?

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

  • delayed onset of symptoms

  • Improve disease evolution

  • Improve the quality of life of patients.

91% of cases were detected by these screening tests.

Cystic Fibrosis Symptoms

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

Therefore, the problems suffered by patients are multiple, SEPAR explains:

  • Repeated respiratory infections, with coughing and lots of mucus, leading to progressive deterioration of the lungs.

  • Diarrhea, greasy stools due to inability to adequately absorb fat.

  • Salty sweat is sometimes accompanied by dehydration.

  • male infertility.

  • intestinal obstruction.

  • diabetes.

  • sinusitis.

  • cirrhosis of the liver.

Treatment is complex but can improve quality of life

It is an incurable pathology, but treatment is complex as each patient presents the disease differently.

Regardless, these treatments are followed properly and strictly and have greatly improved the patient’s quality of life. In the field of pharmacology, the most commonly used drugs are:

  • antibiotic

  • bronchodilator

  • Corticosteroids

  • saline serum

  • trypsin

  • vitamins

  • insulin.

But besides medications, there are other equally important treatments for cystic fibrosis patients, 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, followed by a high-calorie and high-protein diet and isotonic drinks, according to each patient.

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