Cystic Fibrosis Overview

Cystic Fibrosis Overview

Cystic fibrosis (CF) is a genetic, autosomal recessive disorder that significantly impacts life expectancy. It results from mutations in the CFTR gene on chromosome 7. This gene encodes the CFTR protein, an ion channel that helps regulate the transport of chloride ions across epithelial cell membranes. Defective CFTR function leads to the accumulation of thick, sticky mucus, primarily affecting the lungs and digestive tract, causing chronic infections, digestive problems, and other health complications. Symptoms usually arise when mutations are present in both gene copies.

CF is generally divided into two forms: classic and non-classic. The classic form is more common, typically marked by significant organ damage, elevated sweat chloride levels (above 60 mmol/L), and pancreatic insufficiency. The disease progression varies among patients. Non-classic CF involves milder symptoms, normal or borderline sweat chloride levels, and less severe lung involvement. These patients often retain pancreatic function and may have symptoms confined to one or more organ systems.

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