Overview of Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs, pancreas and other organs. It leads to the production of thick, sticky mucus which can cause severe respiratory and digestive problems. Over time CF can result in lung infections, breathing difficulties and nutritional deficiencies. While there is no cure, advances in cystic fibrosis treatments have significantly improved life expectancy and quality of life for affected individuals.

Types of Cystic Fibrosis

1. Classic Cystic Fibrosis: The most severe form leading to chronic lung infections, poor weight gain and digestive issues.

2. Atypical Cystic Fibrosis: A milder form where symptoms appear later in life and are less severe.

3. CF-Related Metabolic Syndrome (CRMS): Individuals show some features of cystic fibrosis disease but do not meet the full diagnostic criteria.

Symptoms of Cystic Fibrosis

Common cystic fibrosis symptoms include:

Chronic cough with thick mucus

Frequent lung infections for example pneumonia and bronchitis

Wheezing and shortness of breath

Poor growth and weight gain despite normal food intake

Salty-tasting skin

Intestinal blockages and severe constipation

Pancreatic insufficiency, leading to malnutrition and vitamin deficiencies

Causes of Cystic Fibrosis

• Genetic mutation: CF is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene.
• Inheritance pattern: It follows an autosomal recessive inheritance, meaning a person must inherit two defective genes (one from each parent) to develop the disease.
• Abnormal mucus production: The faulty CFTR gene affects chloride ion transport, leading to thick and sticky mucus buildup in the lungs and digestive system.

Complications in Cystic Fibrosis

Chronic lung infections (Pseudomonas, Staphylococcus)

Bronchiectasis (lung damage due to mucus accumulation)

Respiratory failure

Diabetes (Cystic Fibrosis-Related Diabetes - CFRD)

Osteoporosis and weak bones

Liver disease

Infertility in males

Risk Factors of Cystic Fibrosis

Family history: Having parents who carry the defective CF gene.

Ethnicity: More common in Caucasians of Northern European descent.

Prevention of Cystic Fibrosis

• Genetic screening: Couples with a family history of CF inheritance can undergo genetic testing.
• Early detection: Newborn screening helps initiate early cystic fibrosis treatment.
• Carrier testing: Helps determine if prospective parents carry the CF gene.