CYSTIC FIBROSIS: The role of genetic testing for early detection, treatment and symptoms

Cystic fibrosis is a progressive, hereditary and often life-threatening disease that causes serious damage to the organs of the respiratory and digestive systems. It is estimated that more than 70,000 people worldwide have cystic fibrosis, and the figure varies on different continents.
Cystic fibrosis is caused by mutations in a special gene called the CFTR gene. Although more than 1700 different mutations can cause cystic fibrosis, approximately 120 are responsible for most cases of cystic fibrosis. These mutations affect the movement of salt and water in and out of cells that are responsible for the production of sweat, mucus and digestive fluids. In people with cystic fibrosis, these fluids become thick and sticky and thus clog the channels, tubes and other places in the body where they are excreted and thus affect the function of the white intestines, the pancreas, the black intestine, the intestine and the digestive system.

A person with cystic fibrosis may have more symptoms that vary depending on the severity of the disease. Some people experience mild to no symptoms until adolescence or adulthood. Symptoms can include salty sweat, frequent respiratory infections, cough, difficulty breathing, malnutrition and intolerance to physical activity, among others. Cystic fibrosis can cause continuous pulmonary respiratory infections that can lead to respiratory insufficiency.

Cystic fibrosis is an autosomal recessive disease, so two copies of the genetic mutation – one from each parent – are needed to inherit the disease. Even if your parents do not have cystic fibrosis, they could be carriers of the disease. Being a carrier means that someone has one copy of the genetic mutation. Even if twins are born as carriers, there is a 25% chance that the child will be born with cystic fibrosis, a 25% chance that the child will not be affected, and a 50% chance that the child will only be a carrier.

Most countries with a high prevalence of cystic fibrosis use a screening test for newborns that includes the most common mutations of the CFTR gene. Neonatal screening is part of the public health program in every country, the purpose of which is to check newborns for genetic conditions, shortly after birth. In addition, cystic fibrosis can be diagnosed at any age with a sweat chloride test or a genetic test.

There are several treatment options that can relieve symptoms and limit complications in patients with cystic fibrosis. Different types of drugs are used, and among the most used treatments are antibiotics to prevent infection, anti-inflammatory drugs to reduce swelling of the respiratory tract, drugs to thin mucus, drugs to reduce mucus in the body, taking pancreatic enzymes. People with cystic fibrosis can use techniques for assisted reproduction, such as in vitro fertilization, to overcome the problem of infertility. Also, there are techniques that help in keeping the airways and white intestines clean, such as deep breathing exercises or drainage through devices for cleaning the airways. People with cystic fibrosis must also seek advice on nutrition, since they have problems with digesting food and absorbing the necessary nutrients. For people who have more intense symptoms, treatment options usually include surgical interventions on the affected organs.

Modular therapy will reveal what is intended to repair or correct the defective protein that is made from the CFTR gene. Since different mutations cause different defects in the protein, the drugs that are developed are effective only in people with specific mutations. The earlier cystic fibrosis is diagnosed and this therapy is implemented, the better the prognosis will be for the affected individual.

Advances in medicine have made it possible for people with cystic fibrosis to live much longer than they did in the past. Many institutions and research centers around the world are working hard for new achievements in the study of this disease and finding cures.
Oreana neonatal screening, which is available in the Avicena Laboratory, can detect mutations that cause the classic phenotype of cystic fibrosis, along with many other conditions.
This content is informative and should not be construed as medical advice. Always talk to your doctor about your condition.

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