13/07/2025
CYSTIC FIBROSIS
CAUSES AND SYMPTOMS
cystic fibrosis
**Cystic fibrosis (CF)** is a genetic disorder inherited in an autosomal recessive manner that primarily affects the lungs, pancreas, and other organs by causing the production of thick, sticky mucus. This abnormal mucus clogs airways and ducts, leading to chronic lung infections, inflammation, and damage, as well as digestive problems due to blocked pancreatic enzyme release[1][2][3].
CF is caused by mutations in the *CFTR* gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. This protein normally regulates chloride and water movement across cell membranes, keeping mucus thin and slippery. When CFTR is defective, mucus becomes thick and sticky, impairing organ function[1][2][6].
**Key effects of cystic fibrosis include:**
- **Lungs:** Mucus buildup causes airway obstruction, recurrent infections, inflammation, and respiratory failure.
- **Pancreas:** Blocked enzyme release leads to malnutrition and poor growth.
- **Liver:** Thick mucus can block bile ducts, causing liver disease.
- **Reproductive system:** Most males with CF are infertile due to blocked or absent vas deferens.
- **Other symptoms:** Sinus infections, salty-tasting skin, clubbing of fingers and toes, and gastrointestinal issues like constipation and bowel obstruction[1][2][5][6].
Diagnosis is typically made by a sweat chloride test and genetic testing. Newborn screening is common in many countries[1][5].
While there is no cure, advances in treatments have improved life expectancy significantly, with many people living into their 30s, 40s, and beyond, managing symptoms with airway clearance techniques, medications, and nutritional support[2][4][7].
In summary, cystic fibrosis is a complex, inherited disease that disrupts mucus regulation, leading to multi-organ complications, primarily affecting respiratory and digestive systems. Early diagnosis and comprehensive care are crucial for improving outcomes.
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