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CYSTIC FIBROSIS
Cystic fibrosis, also known as mucoviscidosis, CF, and 65 roses, is an obstructive lung condition a person may get from their parents.
It makes the body produce thick, sticky mucus, which builds up in the lungs, the digestive system, pancreas, and other parts of the body. It also affects the bones. People with cystic fibrosis need yearly checks for CF-related diabetes in addition to all of the problems it can cause. If both parents have the cystic fibrosis gene, and pass it into their child, the child will have cystic fibrosis. A cystic fibrosis gene is needed from each parent. The parent might not have cystic fibrosis but still might have the gene. A person with cystic fibrosis is not contagious . There is no cure for cystic fibrosis, but there are a lot of medications that help keep people healthy. 1 out of every 3,000 northern Europeans are affected by CF.

Cystic Fibrosis is caused by mutations in the CFTR gene, which is responsible for producing a protein that regulates salt and water movement in and out of cells. The most common mutation in the UK is ΔF508, which affects the protein's function, leading to the production of thick, sticky mucus. This mucus can clog the airways, resulting in recurrent lung infections, inflammation, and progressive lung damage. In addition to respiratory issues, CF can also impede the function of the pancreas, leading to digestive difficulties and nutrient malabsorption.

Symptoms of CF can vary widely but often include persistent cough, difficulty breathing, frequent lung infections, poor growth, and difficulty gaining weight. Early diagnosis and intervention are critical for managing symptoms and improving quality of life.

In the UK, newborn screening for CF is standard practice, utilizing a blood test to measure levels of immunoreactive trypsinogen (IRT). If results are abnormal, further diagnostic tests, including a sweat test and genetic screening, can confirm the diagnosis. Early detection has significantly improved outcomes, allowing for prompt treatment to manage symptoms and complications.

Over the past few decades, treatment for CF has evolved significantly. The care model in the UK emphasizes a multi-disciplinary approach, integrating specialists from respiratory medicine, nutrition, physiotherapy, and psychology to provide comprehensive care.

Recent advancements, particularly in drug therapies, have transformed the landscape of CF treatment. The introduction of CFTR modulators, such as ivacaftor and lumacaftor/ivacaftor (Orkambi), targets the underlying genetic defect, improving the function of the defective protein in a subset of patients. These therapies have shown considerable promise, leading to improved lung function and quality of life for many individuals with CF.

Despite the progress made, challenges remain. Access to the latest therapies can be uneven, and there are ongoing concerns about the long-term sustainability of treatment regimens. Additionally, the CF population is living longer, leading to new health concerns as individuals transition into adulthood.