Cystic fibrosis (CF) is a genetic, inherited disorder that primarily affects the respiratory and digestive systems. It is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which leads to the production of a defective CFTR protein. This defective protein disrupts the normal functioning of cells in various organs, resulting in the buildup of thick and sticky mucus.
Key characteristics and aspects of cystic fibrosis include:
- Respiratory Symptoms: CF primarily affects the respiratory system. The buildup of thick mucus in the airways can lead to symptoms such as:
- Persistent cough with thick mucus production.
- Frequent lung infections, including pneumonia and bronchitis.
- Wheezing and shortness of breath.
- Reduced exercise tolerance.
- Clubbing of fingers and toes (enlarged fingertips and toenails).
- Digestive Symptoms: CF can also impact the digestive system. Thick mucus can block the pancreatic ducts, impairing the release of digestive enzymes into the small intestine. This can lead to:
- Poor digestion and nutrient absorption.
- Foul-smelling, greasy stools.
- Poor weight gain and growth in children.
- Nutritional deficiencies.
- Other Symptoms: Additional features of CF may include:
- Increased salt loss through sweat, which can lead to electrolyte imbalances and dehydration.
- Nasal polyps (noncancerous growths in the nasal passages).
- Chronic sinus infections.
- Infertility in males due to congenital absence or blockage of the vas deferens.
- Increased risk of developing osteoporosis.
- CF-related diabetes.
CF symptoms can vary in severity and may present differently from person to person, depending on the specific CFTR gene mutations involved. Early diagnosis and treatment are crucial for managing the condition and improving the quality of life for individuals with CF.
There is no cure for cystic fibrosis, but advances in medical care and treatment have significantly improved the life expectancy and quality of life for people with CF. Treatment typically involves a combination of medications, airway clearance techniques, nutritional support, and regular medical monitoring by a specialized CF healthcare team. Gene-modifying therapies and other emerging treatments continue to be developed to address the underlying genetic cause of CF.