cystic fibrosis (cf) is a genetic disorder that affects the lungs, pancreas, and other organs. it is characterized by the production of thick, sticky mucus that can clog the airways and trap bacteria, leading to repeated, serious lung infections. over time, these infections can severely damage the lungs. the mucus can also obstruct the pancreas, preventing natural enzymes from helping the body break down and absorb food.
cystic fibrosis is caused by mutations in the cftr gene, which regulates the movement of salt and water in and out of cells. to have cf, a person must inherit two copies of the defective gene, one from each parent. common symptoms include persistent cough, frequent lung infections, wheezing or shortness of breath, poor growth, and weight gain despite a good appetite, and salty-tasting skin.
diagnosis of cystic fibrosis usually occurs in early childhood and involves a sweat test, which measures the amount of salt in sweat, as well as genetic testing to identify mutations in the cftr gene.
while there is no cure for cystic fibrosis, treatment has advanced significantly in recent years. management of the disease includes chest physical therapy to loosen and clear lung secretions, medications to thin mucus and treat and prevent lung infections, and enzyme replacement therapy to aid digestion. lung transplants may be an option for those with severe lung disease.
living with cystic fibrosis also involves a focus on nutrition, as people with cystic fibrosis need more calories and nutrients to counteract poor digestion and to maintain their weight.
ongoing research in cystic fibrosis is focused on understanding the genetics and pathophysiology of the disease, developing new treatments to target the defective cftr protein, and ultimately finding a cure.
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