Understanding Cystic Fibrosis: A Comprehensive Guide

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which codes for a protein involved in regulating salt and water transport across epithelial cells.

It is estimated that one in every 2,500 to 3,500 individuals of European ancestry carries an abnormal CF gene. The disease affects approximately 70,000 people worldwide, with the majority being white.

Symptoms and Diagnosis

The symptoms of CF typically begin in early childhood, with recurring lung infections, persistent coughing, and wheezing. As the disease progresses, patients may experience digestive issues such as malnutrition, weight loss, and bowel obstruction.

A diagnosis is made through a combination of genetic testing, sweat chloride tests, and imaging studies like chest X-rays or CT scans.

Treatment and Management

The primary goal of treatment is to manage lung infections, improve nutrition, and slow disease progression. This includes antibiotics, bronchodilators, and mucolytics, as well as pancreatic enzyme replacement therapy.

Lung transplantation may be considered for patients with advanced disease. Gene therapy and other experimental treatments are also being researched.