Cystic fibrosis is caused by a mutation in the CFTR gene; it is characterized by thick mucus that is difficult to clear from the lungs and other organs and leads to increased susceptibility to infections. It is a progressive condition that typically shortens the lifespan and requires significant management efforts from the affected people and their caregivers.

Cystic fibrosis primarily affects the lungs and leads to issues such as recurrent respiratory infections, chronic cough, and difficulty breathing, but it can also affect the pancreas, bowels, and reproductive organs. Other symptoms include nasal polyps, cyanosis, finger clubbing, sodium loss, malabsorption signs, and absence of the vas deferens.

Cystic fibrosis is diagnosed through early detection of symptoms, such as high sweat chloride levels from a sweat test, and can also be identified via genetic testing, bowel obstructions, or signs of respiratory distress in infants. Additional indicators include pancreatic insufficiency, which can be assessed by measuring fecal elastase levels.

The main medical treatments for cystic fibrosis focus on keeping the airways clear, preventing infections, and maintaining nutritional sufficiency, and approaches vary by disease stage. In the early stages, airway clearance techniques and preventative measures are emphasized, whereas later stages may require antibiotics, anti-inflammatories, and potentially lung or heart transplants.

Several supplements — including NAC, fat-soluble vitamins, pancreatic enzymes, omega-3 fatty acids, probiotics, antioxidants, and creatine — have been studied for cystic fibrosis, and some have become part of routine care. However, there is no consensus on the optimal dosages or formulations, and although some minor benefits have been observed, the overall evidence is considered weak, which necessitates further research.

Diet can significantly affect cystic fibrosis management, particularly via gluten-free diets and dietary counseling to address digestive complications. Additionally, although oral calorie supplements are commonly used to counteract nutrient loss, their effectiveness compared to dietary guidance alone is a topic of debate, and vitamin D levels may also influence lung function in affected individuals.

Management of cystic fibrosis involves a multifaceted approach, including caregiver support, psychological care, and exercise, although the effectiveness of exercise as a replacement for other therapies remains uncertain. Psychological interventions are needed for both affected individuals and their caregivers but have not yet been established or validated.

Cystic fibrosis is a genetic recessive disease caused by mutations in the CFTR gene, which affects electrolyte movement across cell membranes, primarily in the lungs and other organs. The most common mutation involves a deletion of phenylalanine at codon 508, and there are over 1,600 known mutations that can lead to varying disease severity.