Cystic fibrosis What we need to know

Cystic fibrosis (CF) is an inherited, autosomal recessive disease that primarily affects the lungs, pancreas, and sweat glands. During cystic fibrosis, the body produces thick, sticky mucus; Recurrent respiratory infections and pancreatic dysfunction are common.

Cystic fibrosis transmembrane regulator (CFTR), a protein located on the surface of the cell, regulates the movement of water, sodium and chloride ions in the cell. In cystic fibrosis, this protein is either produced less than necessary or is defective. As a result, the mucus produced in the internal organs is thick and sticky. It fills the airways, the pancreatic duct, the gastrointestinal tract, the reproductive system… it often suffocates the lumens, clogs them, slows down organ function, and promotes the development and spread of infection.

Cystic fibrosis, also known as mucoviscidosis, is quite common compared to other genetic diseases: around seventy thousand people are affected worldwide, and the carrier of the mutated gene is much more. The signs of cystic fibrosis are expressed in different degrees: some people do not suffer from anything or the disease is very mild, while others have severe mucoviscidosis, which is characterized by life-threatening complications.

When should we take the test?

  • If your relatives have cystic fibrosis;
  • If your partner has cystic fibrosis (if one partner has cystic fibrosis and the other carries the defective cystic fibrosis gene, then the child will have a 50% risk of developing the disease);
  • If you are planning a pregnancy;
  • If other screening tests for cystic fibrosis show a positive result.

Etiology

All humans have a pair of genes that code for the CFTR protein. He gets one from his mother, the other from his father. The disease develops when both genes are mutated. If a person has only one mutated gene, he is healthy, just a carrier of the mutated gene, which, in theory, he will pass on to half of his offspring.

When both parents carry the mutated gene, the probability of its distribution in the offspring is as follows: one in four is born with the disease, one is completely free of the mutated gene, and two are carriers of the mutated gene. So the chance of having a sick child is only one in four.

Symptoms

The area of ​​action of cystic fibrosis is almost the whole body, but the respiratory tract and digestive tract are affected the most. Symptoms of cystic fibrosis include:

  • recurrent chest infections;
  • Wheezing, cough, shortness of breath and respiratory tract damage (bronchoectasia);
  • weight gain and growth retardation;
  • yellowing of the skin and eyes;
  • diarrhea, constipation;
  • Intestinal obstruction in newborns (meconium ileus) – may require surgery;
  • People with this condition can also develop various diseases, including diabetes, weak bones (osteoporosis), infertility in men, reduced fertility in women, and liver disease.

Other complications:

  • Chronic infections;
  • nasal polyps;
  • bloody cough (hemoptysis);
  • pneumothorax;
  • shortness of breath;
  • Diabetes mellitus;
  • electrolyte imbalance and dehydration;
  • mental health problems.

Diagnosis

There are two main types of tests available to prevent fetal syndromes during pregnancy (prenatal period): screening tests and diagnostic tests. Screening and diagnostic tests determine whether a fetus has a low or high chance of developing various syndromes.

Screening tests – A prenatal screening test can determine if your baby is more or less likely to have birth defects, many of which are genetic disorders. These tests include blood tests, specific ultrasounds, and prenatal cell-free DNA screening. If screening tests show that you have a high risk of having a baby with cystic fibrosis, it is recommended that you also have a diagnostic test to determine if the fetus has the genetic disorder.

Diagnostic tests – After the screening test, the final answer is given by a diagnostic test that examines the genetic material of the fetus and therefore can determine whether the fetus has a genetic disorder. Invasive and non-invasive prenatal diagnostic tests ((NIPT) Verasity, Veragen) are the only, safe and effective way to confirm the diagnostics. A diagnostic (genetic) test can also be used at any age to find out if you are a 'carrier' for cystic fibrosis, even if the condition is genetic.

Be aware that some prenatal diagnostic tests, such as chorionic villus sampling and amniocentesis, carry a small risk of miscarriage.

Learn more about prenatal diagnostics → (https://synevo.ge/prenatal-screening/)

Treatment of cystic fibrosis

There is no cure for cystic fibrosis, but a range of treatments can help control symptoms, reduce symptoms and prevent complications. People with cystic fibrosis may need to take different medications to treat and prevent lung problems. Physical activity and the use of airway clearance techniques may also be recommended to clear mucus from the lungs.

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