Cystic fibrosis: detection, symptoms, symptoms, treatment.Cystic fibrosis (cystic fibrosis) is an inherited disease characterized by digestive problems, breathing problems, respiratory infections caused by mucus build-up and increased salt concentration during sweating.
The disease is caused by mutations in a single gene and is transmitted autosomal recessive, meaning a person can be affected (25% or¼) if they inherit two mutated gene children (both parents are carriers). gene and do not have the disease as they have only one mutated gene).
Cystic fibrosis affects cells that produce mucus
A child who inherits only one mutated gene from one of his parents, does not develop the disease, will be a healthy carrier, just like his parents. Cystic fibrosis affects cells that produce mucus, sweat, juices and digestive enzymes, so the main organs that contain such glands (called exocrine glands) that have abnormal function are the pancreas and lungs.
These secreted fluids are usually rare and slippery, and in people with cystic fibrosis the secretions become sticky and dense. Instead of acting as a moisturiser, the secretions thicken, become more clingy, build up and block ducts and ducts, promoting the appearance of infection, especially in the lungs and pancreas. Although cystic fibrosis requires daily care, people with the disease have a better quality of life than in the past. Due to significant advances in medicine, the life expectancy of people with cystic fibrosis is more than 30 years.
Symptoms of cystic fibrosisSigns and symptoms of cystic fibrosis vary depending on the severity of the disease. The severity of the disease is determined by mutations in the CFTR gene. Some children with cystic fibrosis may not have symptoms until puberty or adulthood. Usually only one in 10 children with cystic fibrosis have symptoms from birth, but in most people with cystic fibrosis these symptoms appear in the first two years of life.
Adults diagnosed with cystic fibrosis may have atypical symptoms such as pancreatitis, infertility (in men, a congenital lack of sperm cells may be the only symptom of the disease) and recurrent pneumonia. People with cystic fibrosis have higher than normal salt levels when sweating. Most other signs and symptoms of cystic fibrosis concern the respiratory and digestive systems. Signs and symptoms of respiratory cystic fibrosis Dense, sticky mucus associated with cystic fibrosis clogs the airway.
Signs and symptoms of respiratory cystic fibrosis
This can cause signs and symptoms such as: Persistent cough that produces dense mucus (sputum))WheezingExercise intoleranceRecurring lung infectionsRhinitis or blocked nose, chronic sinusitisSigns and symptoms of gastrointestinal cystic fibrosisThe dense mucus can also block the tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines will not be able to fully absorb nutrients from food.
Therefore, symptoms may be:Stinking and heavy stools ( stools) – fats that have not been digested in faeces)Slow weight and growthIntestinal obstruction, especially in newborns (Tar obstruction or tar obstruction)pancreatitisSevere constipation can cause rectal prolapse (part of the rectum, the end of the large intestine, protrudes beyond the anus). This may be a sign of cystic fibrosis in children. Rectal prolapse in children may sometimes require surgery.
Diagnosis of cystic fibrosisDiagnosis of cystic fibrosis is a process that takes place in several stages. The full assessment will include, in addition to intelligence, physical examination and laboratory tests: screening of healthy carriers, screening of newborns and diagnosis by genetic testing.To diagnose cystic fibrosis, a pulmonologist can perform several tests:Newborn screening:IRT (immunoreactive trypsinogen): these tests are based on detecting levels of immunoreactive trypsinogen, an enzyme produced by the pancreas that is found in small amounts in the blood.
This is the standard for diagnosing cystic fibrosis
The Test can also give positive results in a variety of situations related to premature birth or delivery complications. If positive results are obtained, genetic testing is recommended.Sweat Test to check salt levels in sweat. This is the standard for diagnosing cystic fibrosis (prior to genetic testing) because people with cystic fibrosis lose a large amount of salt by sweating compared to people who do not have the disease. Sweat tests are useful for diagnosing disease, but cannot be used as a method for predicting disease progression. Nor can they be used to detect people carrying mutations.
Prenatal diagnostic tests for the diagnosis of cystic fibrosis in the unborn child. An invasive procedure (amniotic fluid test or chorionic biopsy) is needed to identify possible genetic mutations.Postnatal genetic testing for mutations in the CFTR gene . The tests are carried out on a peripheral blood sample or on cells taken from the mouth and then analysed in a molecular genetics laboratory. These tests can confirm a positive result of a screening test and a sweat test.Treatment of cystic fibrosisCystic fibrosis cannot be cured, and the goal of treatment is to relieve symptoms and reduce complications.
Treatment for cystic fibrosis is complex and requires a multidisciplinary approach.Treatment goals include:Prevention and control of lung infectionsRemoval of mucus from the lungsTreatment and Prevention of intestinal blockagesEnsuring adequate nutritionIn 2019, the FDA approved the first triple combination drug (elexacaftor / ivacaftor / thesacaftor) to treat patients with the most common mutation in the CFTR gene.
It is approved for children over 12 years of age who have at least one F508del mutation in the CFTR gene, which is estimated to occur in more than 90% of patients.How high is the risk of cystic fibrosis?
It’s important to know that fibrosis is not a contagious disease. It is an inherited genetic disease that occurs when both parents have a mutated cystic fibrosis gene. It is an autosomal recessive disease, meaning it can affect both boys and girls. If a mutated gene has a normal pair of genes, a person with that mutation will be the carrier, but will not get sick. The person carrying the mutation has no signs or symptoms and does not develop.If both parents are carriers of the mutated gene, there is a risk that the child will inherit both mutated genes, leading to the disease.