Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which regulates the transport of salt and water in and out of cells.
The disease is characterized by the production of thick, sticky mucus that clogs the airways and digestive tract, leading to recurring lung infections and malnutrition.
The symptoms of cystic fibrosis typically appear in early childhood, including persistent coughing, wheezing, and recurring lung infections. As the disease progresses, patients may experience digestive issues such as bowel obstruction, liver disease, and pancreatitis.
A diagnosis is made through a combination of genetic testing, sweat chloride tests, and imaging studies like CT scans or MRI.
Treatment typically involves a combination of medications, such as bronchodilators and antibiotics, to manage lung infections and improve respiratory function. Patients may also require nutritional supplements and pancreatic enzyme replacement therapy.
Lifestyle changes, including regular exercise, healthy eating, and avoiding tobacco smoke, are crucial for managing the condition and improving quality of life.