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1. Cystic fibrosis

Cystic fibrosis

Cystic fibrosis (CF) is a genetic, chronic, and progressive disease that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which produces a protein responsible for regulating the movement of salt and water across cell membranes in various organs of the body.

Normally, CFTR protein helps maintain the balance of salt and water in the linings of organs such as the lungs, pancreas, liver, and reproductive tract. However, in individuals with CF, the mutated CFTR protein is either absent, dysfunctional, or reduced in quantity, resulting in the production of thick, sticky mucus that can clog the airways, ducts, and passages in these organs.

Respiratory symptoms are usually the most prominent in CF, including persistent coughing, frequent lung infections, difficulty breathing, and reduced lung function over time. The thick mucus in the lungs provides a breeding ground for bacteria, leading to recurrent infections that can damage the lungs and eventually lead to respiratory failure.

CF also affects the digestive system, particularly the pancreas. The thick mucus can block the ducts of the pancreas, preventing digestive enzymes from reaching the small intestine, which impairs the ability to digest food and absorb nutrients. This can result in malnutrition, poor growth, and delayed puberty in affected individuals.

1. Cystic fibrosis


Other manifestations of CF may include salty-tasting skin, nasal polyps, sinusitis, liver disease, diabetes, and infertility in males due to absence or blockage of the vas deferens, which carries sperm from the testicles.

CF is typically diagnosed in early childhood through newborn screening or in individuals with symptoms suggestive of CF. Treatment involves a multidisciplinary approach that includes medications to improve lung function, clear mucus from the airways, and manage infections; nutritional interventions to optimize digestion and absorption; physical therapy to help clear mucus from the lungs; and other supportive measures. Gene-targeted therapies, such as CFTR modulators, have also been developed to treat specific mutations of CFTR protein.

While there is no cure for CF, advancements in medical care have significantly improved the life expectancy and quality of life for individuals with CF. However, CF remains a lifelong condition that requires ongoing management and care. It is important for individuals with CF to work closely with a healthcare team specializing in CF to develop a comprehensive treatment plan tailored to their specific needs.

 

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