Genetic diseases: Cystic fibrosis

Definition

Cystic fibrosis is a hereditary, degenerative genetic disease that affects the cells that produce mucus, sweat, and digestive juices, causing severe damage to the lungs, digestive system, and other organs of the body.

Causes

Cystic fibrosis is caused by certain inherited genetic mutations that produce viscous secretions that clog the lungs and other organs.

Genetics of the disease

In cystic fibrosis, a mutation in a gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, alters a protein that regulates the movement of salt into and out of cells. The result is thick, sticky mucus in the respiratory, digestive, and reproductive systems, as well as increased salt content in sweat. It is an autosomal recessive disease, meaning a child must inherit the defective gene from both parents.

Symptoms

The disease causes the accumulation of thick, sticky mucus in the lungs, pancreas, liver, and intestines. Signs and symptoms vary depending on the severity of the disease and can include a persistent cough, fatigue, lung infections, and more.

Diagnosis

Cystic Fibrosis can be diagnosed with the  heel prick test newborns, neonatal screening, prenatal genetic testing, and sweat tests to check salt levels.

If you have close relatives with cystic fibrosis, it's advisable to undergo genetic testing before having children. The test, which is performed in a laboratory using a blood sample, can help determine your risk of having a child with cystic fibrosis. www.genotica.com We have tests that study this disease, such as AmpliCFTR34. of ampligen.

Treatment

This disease has no cure, and your doctor may recommend vitamins, increased physical activity, antibiotics, inhalers, etc., to relieve symptoms. Early diagnosis is important for a better quality of life.