Cystic Fibrosis: Understanding the Genetic Disorder

Cystic fibrosis (CF) is a life-threatening autosomal recessive disorder caused by mutations in the CFTR gene. It primarily affects the lungs, pancreas, liver, intestines, and sweat glands. "Neuro cystic fibrosis" is not a recognized medical term.

Pathophysiology

Defective CFTR protein → impaired chloride/bicarbonate transport → thick, sticky mucus → chronic infection, inflammation, and organ damage.

Major Manifestations

• Pulmonary: Chronic cough, recurrent infections (Pseudomonas, Staph), bronchiectasis, respiratory failure
• Pancreatic: Exocrine insufficiency → malabsorption, malnutrition, CF-related diabetes
• Hepatic: Focal biliary cirrhosis
• Reproductive: Male infertility (absent vas deferens); reduced female fertility
• Sweat: Elevated chloride (diagnostic test)

Diagnosis & Management

• Newborn screening (IRT/DNA) → sweat chloride test → genetic confirmation
• Multidisciplinary care: airway clearance, inhaled antibiotics, CFTR modulators (e.g., Trikafta), pancreatic enzymes, nutritional support
• Median survival now >50 years in developed countries

CF does not primarily affect the nervous system. Consult a CF specialist for accurate information.