Frequently asked questions

Cystic Fibrosis (CF) is a chronic genetic condition caused by changes (mutations) in the CFTR gene. This gene controls a protein that regulates the movement of salt and water in cells. When this protein does not work properly, thick mucus forms, mainly affecting the lungs and digestive system.

It is caused by mutations in the CFTR gene. Many genetic variants that can cause CF have been identified to date.

CF is inherited in an autosomal recessive pattern. This means a child must inherit two copies of the altered CFTR gene: one from the mother and one from the father. Parents are usually carriers and do not have symptoms.

No. Cystic Fibrosis is not an infectious disease and cannot be transmitted from one person to another.

Symptoms vary from person to person, but may include:

• Chronic cough and thick secretions
• Recurrent lung infections
• Difficulty gaining weight
• Digestive problems
• Pancreatic enzyme insufficiency

Diagnosis is based on:

• Clinical assessment
• Newborn screening (where available)
• Sweat test
• Genetic testing

It is the main test used to diagnose CF. It measures the amount of chloride (salt) in sweat. People with CF usually have higher chloride levels in their sweat.

It identifies changes in the CFTR gene and helps confirm the diagnosis and determine the patient’s mutation.

There is currently no definitive cure for all patients, but modern treatments have greatly improved the quality of life and life expectancy of people with CF.

Main treatments include:

• Airway clearance physiotherapy
• Inhaled medicines
• Antibiotics
• Pancreatic enzymes
• Vitamins A, D, E, K
• Nutritional support
• CFTR modulators

They are medicines that act on the defective CFTR protein and can treat the underlying cause of the disease in patients with eligible mutations.

Because many people with CF have a pancreas that does not produce enough enzymes to digest food. Enzymes help the body absorb fats and nutrients.

It helps clear thick secretions from the lungs and maintain respiratory function.

They help thin secretions and improve airway function.

Yes. Appropriate physical activity can help strengthen the lungs and improve physical fitness.

Yes. Children with CF can attend school with the necessary care and support.

Yes. Many people with CF have families. Genetic counselling and medical follow-up are recommended.

The association aims to:

• Support patients and families
• Provide information and education
• Improve CF services in Albania
• Collaborate with institutions and international organisations

By contacting FK-ShPPSh and completing the membership process.

There are several ways to support FK-ShPPSh:

• Membership — by becoming part of the community of people and families affected by Cystic Fibrosis.
• Volunteering — by contributing your time, skills and experience to the association’s activities.
• Partnerships — by building partnerships with institutions, organisations, professionals and the community.
• Donations — which help the association develop activities, projects, information services, family support and initiatives to improve care.
• Project support — by helping raise awareness and improve services for the Cystic Fibrosis community.