Cystic Fibrosis

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Causes of Cystic Fibrosis

A mutation in the CFTR (cystic fibrosis transmembrane conductance regulator) causes cystic fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells.

Gene and chromosome linked to the disease

A gene mutation on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator)

Testing used to diagnose the disease

People with Cystic Fibrosis have between 2 and 5 times the normal amount of salt in their sweat. Doctors can use a sweat test to measure the amount of salt in a person's sweat. Sweat is collected from the person's arm or leg and taken to a laboratory to be carefully studied. In newborns doctors can measure the amount of a protein in the blood. The level of this protein is higher than normal in people with Cystic Fibrosis. Also genetic tests can identify a faulty CFTR gene using a sample of the patient's blood.

Who in the population can be affected by it and how do you get it

Male and female

Family history of the disease

Cystic fibrosis is a recessive gene so both parents have to have cystic fibrosis for the kid to have it. There is a 25% chance that the baby can get cystic fibrosis if both parents have cystic fibrosis.

Symptoms

    • Foul-smelling, greasy stools
    • Poor weight gain and growth
    • Intestinal blockage, particularly in newborns (meconium ileus)
    • Severe constipation
    • A persistent cough that produces thick (sputum) mucus
    • Wheezing
    • Breathlessness
    • Exercise intolerance
    • Repeated lung infections
    • Inflamed nasal passages or a stuffy nose
Big image

Above is an example of a symptom from Cystic Fibrosis

Medical assistance

After a child is diagnosed a team of health professionals will build a treatment plan based on the child's specific health problems. The person will likely have ongoing respiratory therapy, digestive therapy, and treatment with medicines such as antibiotics.

Treatments and cures

There is no cure

Antibiotics can help with symptoms and makes it easier to deal with.