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.
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.
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