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How is cystic fibrosis diagnosed?

Many cases of cystic fibrosis are diagnosed shortly after birth, either through routine genetic testing or if an infant shows characteristic signs of the condition. The diagnosis of cystic fibrosis combines two approaches: testing for the gene mutations that cause the condition and testing for the clinical signs of cystic fibrosis. Prenatal genetic screening for cystic fibrosis is also available.

FAQ Frequently asked questions

What is cystic fibrosis?

Cystic fibrosis is an inherited genetic disorder. It is caused by a gene mutation that causes cells to secrete an abnormally thick and sticky mucus. The mucus interferes with the normal functions of the lungs and airways, and affects other organs of the body …

What causes cystic fibrosis?

In cystic fibrosis a gene called CFTR, which plays a vital role in mucus production, is faulty. The gene makes the CFTR protein which is essential for balancing the salt concentration in the body's cells. When it does not work properly, the cells that produce …

What are the signs and symptoms of cystic fibrosis?

The main signs and symptoms of cystic fibrosis occur in the respiratory and digestive systems. Signs and symptoms in the respiratory system include breathing difficulties; persistent, nagging cough; repeated lung infections; sinusitis; …

Who can develop cystic fibrosis?

Cystic fibrosis develops when a child inherits two copies of the defective CFTR gene, one from each carrier parent.

How common is cystic fibrosis?

Millions of people are healthy carriers of the mutated CFTR gene, but only about 70,000 people worldwide have cystic fibrosis. It is most common in people of northern European descent.

What treatments are available for cystic fibrosis?

Cystic fibrosis is treated with a combination of physical therapy, medications, special nutrition and exercise.

What is the quality of life for a person with cystic fibrosis?

Today, advances in treatment have allowed people with cystic fibrosis to live well into adulthood. The current average life expectancy of people with cystic fibrosis is 38 years. People with cystic fibrosis can expect to lead a …

Is there a cure for cystic fibrosis?

Presently, there is no cure for cystic fibrosis. However, people with cystic fibrosis can expect to lead a relatively normal life if they follow the nutritional, physical and medication routines specifically developed to improve the quality of life.

What are the complications of cystic fibrosis?

Lung problems are the main complications and the major cause of death in people with cystic fibrosis. These include coughing up blood, collapsed lung (pneumothorax), nasal polyps, sinusitis and respiratory failure. Complications of the …

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About this article

Author: Dr Joanne Van der Velden PhD, BSc (Hons)
First answered: 18 Sep 2014
Last reviewed: 19 May 2018
Rating: 4.1 out of 5
Votes: 51 (Click smiley face below to rate)
Category: Bronchitis

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