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CYSTIC FIBROCIS (CF)

 KEY FEATURES OF CYSTIC FIBROCIS

Cystic fibrosis (CF) is a genetic disorder that affects the lungs and digestive system. It is caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This gene is responsible for producing a protein that helps control the movement of salt and water in and out of cells, affecting the consistency of mucus and other fluids in the body.


Respiratory System

Thickened Mucus: CF causes the production of thick and sticky mucus in the airways, leading to respiratory issues.

Chronic Lung Infections: The thick mucus provides a breeding ground for bacteria, leading to frequent lung infections.

Digestive System

Pancreatic Issues: Many individuals with CF have pancreatic insufficiency, affecting the production of digestive enzymes needed for nutrient absorption.

Malabsorption: Digestive problems can lead to difficulty absorbing nutrients, resulting in poor growth and nutrition.

Other Organs and Systems

Sweat Glands: People with CF often have saltier sweat than those without the condition, a characteristic used in diagnostic testing.

Reproductive System: CF can affect fertility in both males and females.

Symptoms

Persistent cough with thick mucus.

Frequent lung infections.

Difficulty breathing.

Poor growth and weight gain.

Digestive issues such as greasy stools and difficulty gaining weight.

Salty-tasting skin.

Diagnosis

Newborn screening is common in many countries to detect CF early.

Sweat test to measure salt levels in sweat.

Genetic testing to identify CFTR gene mutations.

Treatment and Management

Airway Clearance Techniques

Physical therapies and exercises to help clear mucus from the lungs.

Medications

Antibiotics to treat and prevent infections.

Medications to help thin and loosen mucus.

Pancreatic enzyme supplements to aid digestion.

Nutritional Support

A high-calorie, nutrient-rich diet to support growth and development.

Lung Transplant

In severe cases, a lung transplant may be considered.

Physiotherapy:

Regular physiotherapy and exercise are essential for maintaining lung function.

Monitoring and Regular Check-ups

Ongoing medical monitoring to manage symptoms and complications.

Life Expectancy

Advances in medical treatment have significantly improved the life expectancy of individuals with CF. Many people with CF now live into their 30s, 40s, and beyond.

Cystic fibrosis requires comprehensive and lifelong management. While there is no cure, advances in medical research and treatment have improved the quality of life and life expectancy for individuals with CF. Treatment plans are typically individualized based on the specific needs and symptoms of each person. Early diagnosis and intervention are crucial for effective management.

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