Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that primarily affects the lungs, but also the pancreas, liver, kidneys, and intestines. It is characterized by the production of abnormally thick and sticky mucus, leading to the blockage of the bronchi, the main air passages in the lungs.

Causes

Cystic Fibrosis is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is responsible for controlling the movement of salt and water in and out of the body's cells. In people with Cystic Fibrosis, the CFTR protein doesn’t work properly or is not produced at all, leading to the build-up of thick, sticky mucus in the body's tubes and passageways.

Symptoms

The symptoms of Cystic Fibrosis can vary, but the most common ones include persistent cough, recurrent chest infections, and difficulty gaining weight or malnutrition. Other symptoms can include diarrhea, very salty sweat, and male infertility.

Diagnosis

Cystic Fibrosis is usually diagnosed in infancy through newborn screening tests. The diagnosis can be confirmed with a sweat test, which measures the amount of salt in the sweat, and a genetic test, which identifies the CFTR mutations.

Treatment

While there is no cure for Cystic Fibrosis, treatment can improve the quality of life and lifespan for those with the disease. Treatment usually involves a combination of medication, physiotherapy, and exercise. Medications can help to manage symptoms, prevent and treat complications, and address the underlying cause of the disease.

Prognosis

The prognosis for people with Cystic Fibrosis has improved significantly in recent years, thanks to advancements in treatment and care. However, the disease can still cause serious complications and reduce life expectancy.

See Also

• Genetic disorders
• Lung diseases
• CFTR

Cystic Fibrosis Resources
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