Cystic Fibrosis: Symptoms, Causes, Treatment
التليّف الكيسي
Cystic fibrosis is a genetic disease affecting breathing, digestion and other organs through altered salt and water transport. Specialist care and suitable mutation-directed treatments can improve health, but options are not identical for everyone.
What is Cystic Fibrosis?
It may begin in childhood or be recognized later, with variable severity. CF itself is not contagious, although certain respiratory organisms can pass between affected people and require specific precautions.
Related reading: Malnutrition and impaired absorption.
Symptoms
Persistent cough, recurrent chest infections, poor weight gain, greasy stools or salty sweat may occur. Symptoms vary: one feature cannot confirm CF, and absence of early lung problems does not exclude it.
Causes
Disease-causing CFTR variants inherited from both parents alter secretions and organ function. CF is not caused by inadequate hygiene or nutrition.
Risk factors
Risk depends on inherited disease-causing variants, and CF occurs across ancestries. Carrying one variant is different from having the disease; genetics professionals help interpret family results.
Diagnosis
Assessment includes sweat chloride testing in an appropriate center and genetic investigation alongside symptoms. Positive newborn screening requires confirmation. Borderline results or persistent suggestive symptoms may require further evaluation.
Treatment
Care may include airway clearance, infection treatment, nutritional support and pancreatic enzymes when needed. CFTR modulators depend on mutation, age and safety criteria. Do not stop established treatments after breathing improves without discussing the plan.
Complications
Possible complications include bronchiectasis, infections, malabsorption, CF-related diabetes and liver or bone disease. Fertility can be affected and warrants individualized advice.
Prevention
Follow inhalation-equipment cleaning, hand hygiene and vaccination advice and avoid smoke. Use team-recommended precautions against transmission between people with CF. Include nutrition, activity, mental health and reproductive planning in follow-up.
When to see a doctor
Contact the team for worsening cough, changed sputum, fever or weight loss. Severe breathlessness, sudden chest pain, significant coughing of blood or possible bowel obstruction needs urgent assessment.