Diagnosis of Cystic Fibrosis

When the gene that enables us to secrete saliva, sweat, mucous and our digestive juices fails to function properly the result is CF or Cystic Fibrosis. This gene does not allow salt to move throughout the cells effectively, thus increasing the viscosity or thickness of the fluids. If two parents are carriers of this disorder the child has a 25% chance of having it, a 50% chance of being a carrier for it, and a 25% chance of neither of these taking place.

The disease not only causes its sufferers lung damage and nutritional deficits, it is life threatening. A normal persons secretions are of thin consistency and able to flow easily, but in a person with Cystic Fibrosis these secretions become thick and sticky. This effect prevents free flow and plugs up the person\’s organ systems instead. This can cause respiratory failure, as well as other complications, such as the inability to digest protein and fat due to blocked pancreatic enzymes, and the malabsorption of essential vitamins that help to keep you healthy.

Cystic Fibrosis is inherited and treatment is aimed at relieving the symptomatology that it presents. Symptoms present themselves in the way of respiratory infections, greasy, foul-smelling stools, salty skin, a decreased growth rate, wheezing, coughing, thick, sticky sputum, clubbing of the fingertips, polyps, liver cirrhosis, rectal prolapse and intestinal displacement.

In terms of ancestry, Northern Europeans are most at risk, followed by Hispanics, Blacks, and Asian-Americans.

Diagnosis is done by a sampling of saliva or blood. This may show whether or not you are a carrier of the defective gene. If a pregnant woman is diagnosed as a possible carrier additional tests can be carried, although treatment cannot begin until after the birth of the child.

Another test for the detection of Cystic Fibrosis is a simple sweat test. This test enables the health professional to measure the sodium chloride levels in the sweat of the potential sufferer. For this test a chemical is put on the skin, either an arm or a leg, with electrode placement that will stimulate a current. It is a painless procedure.

This will cause the skin to produce warmth, thereby producing sweat. This collected sweat specimen is then sent to the laboratory where further testing will be done. This procedure is usually done twice to assure consistency in results. The sweat test is sometimes nonconclusive in the newborn due to lack of sweat formation.

Additionally, other tests with blood samples may detect the severity of this disorder enabling the medical professional to determine how well the other bodily organs are working, such as the pancreas, liver, and lungs. Treatment for CF consists mainly of medications.

If you suspect CF in your child it is imperative to seek medical treatment so that the proper medical care can be given. If diagnosed medications will be given to provide symptomatic relief. Good nutrition, fluid intake, nutritional supplements, regular medical check-ups and steps to prevent infection, including proper and frequent handwashing should be maintained.

RESOURCES

MayoClinic: Cystic Fibrosis

National Heart Lung and Blood Insitute: How is Cystic Fibrosis Diagnosed?

Cystic Fibrosis Foundation: Diagnosis

Cystic Fibrosis Foundation: FAQs

Lucile Packard Children\’s Hospital Stanford: How is Cystic Fibrosis Diagnosed?