Cystic Fibrosis

Cystic Fibrosis (pronunciation: SIS-tik fi-BRO-sis) is a genetic disorder that primarily affects the lungs, but also the pancreas, liver, kidneys, and intestine. It is characterized by the production of abnormally thick and sticky mucus, leading to severe respiratory and digestive problems.

Etymology

The term "Cystic Fibrosis" is derived from the Greek word "kystis" meaning bladder or sac, and the Latin word "fibrosis" meaning fibrous tissue. The name refers to the characteristic cysts and fibrosis that develop in the pancreas of patients with this condition.

Symptoms

Cystic Fibrosis is characterized by a variety of symptoms, including persistent cough, frequent lung infections, wheezing or shortness of breath, poor growth or weight gain despite a good appetite, and frequent greasy, bulky stools or difficulty with bowel movements.

Causes

Cystic Fibrosis is caused by a mutation in the CFTR gene, which encodes a protein that regulates the movement of chloride ions in and out of cells. This mutation leads to the production of thick, sticky mucus that can clog the lungs and obstruct the pancreas.

Diagnosis

Diagnosis of Cystic Fibrosis typically involves a sweat test, which measures the amount of salt in a person's sweat. High levels of salt can indicate Cystic Fibrosis. Genetic testing can also be used to identify the CFTR mutation.

Treatment

While there is no cure for Cystic Fibrosis, treatments are available to manage symptoms and slow the progression of the disease. These may include physiotherapy to clear the lungs, medications to thin mucus, and antibiotics to treat lung infections.

Related Terms

• CFTR gene
• Genetic disorder
• Sweat test
• Physiotherapy

External links

• Medical encyclopedia article on Cystic Fibrosis
• Wikipedia's article - Cystic Fibrosis

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