What is a defining feature of cystic fibrosis?

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Cystic fibrosis is a genetic disorder that primarily affects the respiratory and digestive systems due to mutations in the CFTR gene, which encodes a protein that regulates the movement of chloride and sodium ions across epithelial membranes. One of the hallmark features of cystic fibrosis is the production of thick and sticky mucus. This excess mucus results from disrupted ion transport, leading to the obstruction of airways and impeding normal lung function as well as affecting the pancreas and digestion.

The impact of excessive mucus is significant in individuals with cystic fibrosis. In the lungs, the thick mucus traps airborne pathogens, leading to chronic lung infections, inflammation, and progressive damage to lung tissue. In the digestive tract, the thickened secretions hinder the proper release of digestive enzymes from the pancreas, leading to malabsorption of nutrients.

Understanding this defining feature is crucial for recognizing the pathophysiology of the disease and its management strategies, which often aim to facilitate mucus clearance and improve lung function through various therapies.

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