Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the CFTR gene, which regulates the movement of salt and water in and out of cells. These mutations lead to the production of thick, sticky mucus in the airways and digestive tract, causing a range of symptoms and complications.
Impact of Gene Variant
The CFTR gene variants associated with cystic fibrosis can affect the function of the CFTR protein in various ways. Some mutations result in a complete absence or dysfunction of the CFTR protein, leading to severe symptoms of CF. Other mutations may cause milder forms of the disease with fewer symptoms.
Ways to Recognize Problems
Recognizing the symptoms of cystic fibrosis is essential for early diagnosis and management. Common signs and symptoms include:
- Persistent cough with thick mucus
- Frequent lung infections, such as pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor growth or weight gain despite a good appetite
- Salty-tasting skin
- Digestive problems, including greasy stools, abdominal pain, and poor nutrient absorption
Ways to Improve
While there is no cure for cystic fibrosis, several treatments and lifestyle strategies can help manage symptoms and improve quality of life:
