Diagnosis:
Cystic fibrosis can be tested using sweat chloride test and genetic testing. During the sweat
chloride test they check the patients chloride levels in their sweat. If the patient is six months or
older their chloride levels should range up to 39mmol/L, levels greater than 60mmol/L may
indicate cystic fibrosis. Genetic testing can be done when the infant is born by testing their blood
levels of pancreatic enzyme trypsinogen. High levels may indicate cystic fibrosis. 1
Common symptoms: 3
Chronic cough/wheezing
Foul smelling stool
Upper respiratory infections
Salty- tasting skin
Abnormal bowel movements
Difficulty gaining weight
Who is affected?
Cystic fibrosis affects all ethnic and racial groups but is more commonly seen in Caucasian
Americans. It is usually diagnosed in young children under the age of 3. 5
It affects 1:2500 live births.5
United States accounts for 30,000 individuals diagnosed out of 40,000 nationally, with 1,000
new diagnoses every year. Average life-span is 37 for women and 40 years old for men. 5
There is NO cure. 5
How does Genetics play a role?
Cystic fibrosis a genetic mutation of the gene called cystic fibrosis transmembrane conductance
regulator located on chromosome 7. This gene is responsible for the transport of sodium, water
and chloride across the cell membrane, allowing solutions to flow freely. When the gene is
disrupted it causes the mucus glands to produce abnormally thick and sticky mucus. 6
It is an autosomal recessive disorder. This means that both parents can have one copy of the gene
mutation and one normal copy. The patients are considered carries without being affected. If
both parents are carries the child has a 25 percent chance of being diagnosis with cystic fibrosis.
If one parent has both chromosomes with the cystic fibrosis transmembrane conductance
regulator mutation then the child has a 50 percent chance of having cystic fibrosis. 6
References
1.)
Gardner J. What you need to know about cystic fibrosis. Nursing [serial online].
July 2007;37(7):52-55. Available from: Academic Search Complete, Ipswich,
MA. Accessed October 5, 2014.
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