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Cystic
Fibrosis (CF) Fact Sheet
Primary Defect
A defective protein disrupts the movement of salt and water across cell
membranes. This causes the body to produce abnormally thick, sticky mucus
that builds up in the lungs, digestive system, and other organs of the
body.
Screening Test
Measurement of the pancreatic enzyme immunoreactive trypsinogen (IRT) in
the newborn screening dried blood spot specimen. Persistent elevation in
two newborn screening specimens requires diagnostic evaluation.
Diagnoses
Measurement of the salt level in sweat by the sweat iontophoresis test,
or DNA testing for disease causing mutations in the CFTR (cystic fibrosis
transmembrane conductance regulator) gene. Elevated sweat test levels or
finding of two disease causing mutations establish diagnosis.
Etiology & Prevalence
Mutations in
the CFTR gene prevent the production of normal protein needed to
effectively move salt and water across cell membranes. Cystic fibrosis
only occurs if each of the two copies of the CFTR gene contain a disease
causing mutation (autosomal recessive). A single mutation will not cause
disease.
About one in every 3,500 babies in the United States is born with CF.
If Not Treated Early
Poor absorption of food and
vitamins can result in malnutrition, failure to thrive and lead to
developmental defects. Although uncommon, severe symptoms can be life
threatening.
Treatment
Early treatment typically includes enhancing nutritional status with a
high-calorie, high-protein diet, vitamin, and pancreatic enzyme
supplementation. Later, treatment typically expands to include techniques
aimed at maintaining lung function and preventing infection.
With Early Treatment
Early identification and treatment provides opportunity for significant
benefits, including improved growth, improved cognitive function, improved
survival, and reduced hospitalization.
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