Cystic Fibrosis (CF)

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Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems of the body, with its most prominent effects on the lungs and pancreas. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which plays a crucial role in producing sweat, digestive fluids, and mucus. The mutations lead to the production of thick and sticky mucus that can clog the airways and trap bacteria, resulting in repeated, severe lung infections and progressive lung damage.

Cystic Fibrosis (CF)




CF is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the CFTR gene, one from each parent, to develop the disease. Carriers of the disease, who have only one copy of the mutated gene, generally do not show symptoms. The CFTR gene mutations affect the CFTR protein’s ability to regulate the movement of chloride ions across cell membranes, which is essential for maintaining the water balance necessary to produce fluid mucus.


Symptoms of CF can vary in severity from person to person and may become more severe over time. Common symptoms include:

  • Persistent coughing, often with phlegm
  • Frequent lung infections
  • Wheezing or shortness of breath
  • Poor growth or weight gain despite a good appetite
  • Salty-tasting skin
  • Difficulty with bowel movements


Diagnosis of CF can occur at various stages of life, from infancy through adulthood. Newborn screening programs in many countries include tests for CF, which can detect the condition early in life. Other diagnostic tests include sweat chloride tests, which measure the amount of chloride in sweat, and genetic testing to identify mutations in the CFTR gene.

While there is no cure for CF, treatments are available that can help manage symptoms, reduce complications, and improve the quality of life for those living with the disease. Treatment plans are tailored to each individual’s specific needs and may include:

  • Airway clearance techniques to help loosen and remove mucus from the lungs
  • Inhaled medicines to open the airways or thin the mucus
  • Oral and intravenous antibiotics to treat lung infections
  • Pancreatic enzyme supplement therapy to improve the absorption of nutrients
  • CFTR modulators, a class of drugs that target the underlying genetic defect in some people with CF


The life expectancy for individuals with CF has improved significantly over the past few decades due to advances in treatment and care. Many people with CF now lead long and fulfilling lives, with the median age of survival extending into the late 30s, 40s, and beyond. Ongoing research continues to focus on finding a cure and developing new treatments to further extend the quality and length of life for those with CF.

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