Health Conditions

What is it?

Cystic Fibrosis (CF) is a genetically-inherited medical condition that affects many systems of the body. Normally, specialized cells secrete watery, thin liquids such as mucus, sweat, and digestive juices. In patients with CF, defects of a gene known as CFTR alter the function of a protein that regulates ion transport, which is the normal movement of sodium, chloride, and water in the body. This alteration causes secretions to be abnormally heavy, thick, and sticky. As a result, these thick secretions accumulate and cause problems in the respiratory, reproductive, and digestive systems of the body. For example, the presence of these abnormal secretions in the lungs can often make it difficult for an individual with CF to breathe normally. Many times, this uncharacteristically thick fluid can build up in the digestive tract, making it harder to digest foods.

A CFTR abnormality also increases the salt level in sweat produced by individuals with CF. In fact, a sweat test is the classic diagnostic test for CF. A high salt level in the sweat strongly suggests CF. Confirmation or evidence for diagnosis of CF may be made in a number of ways:

• Trypsin test- a test used to evaluate the pancreatic (pancreas gland) function of an individual by detecting amounts of trypsin (a product of the pancreas) in the stool.
• Pulmonary function tests- tests used to evaluate lung function/breathing ability.
• Chest x-ray findings- tests used to detect the presence of mucus deposits in the lungs.
• Genetic tests- tests used to detect the presence of genetic defects that are indicative of cystic fibrosis.

<< Back

What causes it? >>