Cystic Fibrosis

Cystic fibrosis is a genetic disorder that affects the lungs, digestive system, and other organs. It causes the body to produce thick, sticky mucus that can clog airways and ducts, leading to chronic respiratory infections and digestive problems. Cystic fibrosis is a lifelong condition that usually begins in early childhood. Advances in treatment have significantly improved life expectancy and quality of life for people with the disease.

Symptoms

Symptoms of cystic fibrosis vary depending on the organs involved and the severity of the condition.

Common symptoms include:

• Persistent coughing with thick mucus

• Frequent lung infections

• Shortness of breath or wheezing

• Poor growth or weight gain in children

• Salty-tasting skin

• Greasy, bulky, or foul-smelling stools

• Abdominal bloating or constipation

• Fatigue and low energy levels

Symptoms often appear in infancy or early childhood.

Causes

Cystic fibrosis is caused by a genetic mutation that affects the cystic fibrosis transmembrane conductance regulator gene.

Key points about causes include:

• Inherited in an autosomal recessive pattern

• Both parents must carry the mutated gene

• The gene defect disrupts salt and water movement in cells

• This leads to thick mucus production in affected organs

Cystic fibrosis is not contagious and cannot be acquired later in life.

Risk factors

Risk factors for cystic fibrosis are primarily genetic.

Risk factors include:

• Having parents who are carriers of the cystic fibrosis gene

• Family history of cystic fibrosis

• Certain ethnic backgrounds with higher carrier rates

The condition affects both males and females equally.

Complications

Cystic fibrosis can lead to serious and long-term complications.

Possible complications include:

• Chronic lung disease and respiratory failure

• Repeated lung infections

• Pancreatic insufficiency and diabetes

• Liver disease

• Intestinal blockage

• Infertility in most males

• Bone thinning and fractures

Ongoing medical care helps reduce the impact of these complications.

Prevention

Cystic fibrosis cannot be prevented once inherited, but early detection and management improve outcomes.

Preventive strategies include:

• Genetic counseling for couples with a family history

• Carrier screening before or during pregnancy

• Newborn screening for early diagnosis

• Regular follow-up with specialized care teams

• Adhering to treatment plans to prevent complications

Early diagnosis and consistent care play a key role in improving long-term health and survival.