Cystic fibrosis

Cystic fibrosis can be diagnosed through an evaluation of symptoms and testing. All newborns are now screened for this disease to ensure early detection and treatment. Screening can be done by analyzing a sample of the baby’s blood for high levels of immunoreactive trypsinogen generated by the pancreas. High levels of IRT in newborns may be due to premature birth or the stress they experience during childbirth, so further tests are often needed to confirm a cystic fibrosis diagnosis.

The disease can also be detected in a newborn with a sweat test, which involves applying a substance to a small area of skin to stimulate sweat production, then collecting it to check for an abnormally high salt content. A physician may recommend genetic testing to detect the presence of specific mutations in the gene responsible for cystic fibrosis. These tests can be used in conjunction with an analysis of IRT levels to confirm the diagnosis.

Adults and older children who were not screened at birth may be advised to undergo diagnostic testing for cystic fibrosis if they suffer from problems such as inflammation of the pancreas, chronic sinusitis, chronic lung infections, nasal polyps, chronic cough, or are underweight.

Cystic fibrosis may lead to complications in the respiratory, digestive, and reproductive systems, and may also affect many organs. Patients with cystic fibrosis are under medical supervision to ensure proper management of these symptoms and complications. Problems such as damaged airways, nasal polyps, chronic infections, episodes of hemoptysis (coughing up blood), pneumothorax, respiratory failure, and acute exacerbations are common in the respiratory system.

Cystic fibrosis can also lead to complications of the digestive system, such as diabetes, nutritional deficiencies, liver disease, intestinal obstructions, and distal intestinal obstruction syndrome. Complications of the reproductive system include infertility in men and reduced fertility in women. Mental health problems such as depression and anxiety, and bone problems such as osteoporosis, are also a risk.

Unfortunately, there is no cure for cystic fibrosis, but symptoms can be alleviated and quality of life improved. Early intervention is recommended to slow the progression of the disease and prolong life expectancy. Managing the disease is complex, and generally requires care in a specialized centre with a multidisciplinary team of medical specialists.

Cystic fibrosis treatment focuses on preventing and controlling lung infections, clearing mucopurulent secretions from the lungs, treating and preventing intestinal obstructions, and ensuring adequate nutrition. Treatment may include drugs that target the gene mutations involved, antibiotics to treat or prevent lung infections, anti-inflammatory or mucopurulent clearance drugs, bronchodilators inhalers, oral pancreatic enzymes, stool softeners to prevent constipation or intestinal obstructions, and specific drugs for diabetes or liver disease, if necessary.

Cystic fibrosis transmembrane permeability regulator (CFTR) modulators may be recommended for patients with certain genetic mutations. Other treatments include techniques to clear the airways, pulmonary rehabilitation, and surgical procedures.