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Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis is an inherited genetic disease that normally affects the respiratory system, pancreas and sweat glands.

The cause of cystic fibrosis is a mutation in the gene CFTR which is found on chromosome 7. This disease has an incidence in the population of 1 in every 2,000-3,500 live births.

The most common clinical aspects of cystic fibrosis are the following:

  • Recurrent Pneumonia.
  • Pancreatitis.
  • Increased electrolytes.
  • Nasal congestion.
  • Exercise Intolerance.
Imagen: Absence of vas deferens due to cystic fibrosis

In addition to these clinical manifestations, there are other signs and symptoms of cystic fibrosis depending on the severity in each patient.

This disease has a recessive autosomal recessive inheritance, which requires that both partners carry the mutation of the gene that causes cystic fibrosis. In this case, it is recommended to perform a preimplantation genetic diagnosis (PGD) to avoid the transmission of the disease.