Cystic Fibrosis
par Ally Grabosky
1. Incidence/Prevelence
1.1. More than 10 million Americans carry the CF gene and most do not know that they are carriers
1.2. More than 30,000 Americans love with cystic fibrosis and more than 70,000 live with it worldwide
1.3. Approximately 1,000 new cases of cystic fibrosis are diagnosed each year
1.4. More than 75% of cases are diagnosed by age 2
1.5. The average life expectancy of cystic fibrosis patients in the US is 37.5 years
2. Diagnostics
2.1. Newborn screening: genetic test which shows the faulty CFTR gene or a blood test, to see if the pancreas works properly
2.2. Sweat test: measures the amount of salt in your sweat. The doctor triggers sweating on a small patch of skin and then the sweat
2.3. Chest X-Ray: chest x-ray's can show if lungs are inflamed or fluid build up in lungs
2.4. Lung Function Test: The most common lung function test is the use of a spirometer. This measures how quickly and how much air you can move out of your lungs.
3. Pathogenisis
3.1. How it occurs?
3.1.1. Mutations in the gene that makes a protein called Cystic Fibrosis transmembrane regulator.
3.1.2. A person with CF produces abnormal CFTR, which can cause the body to make thick, sticky mucus.
3.1.3. People with this disease must inheri 2 copies of the defective CF gene, which requires both parents to have 1 copy of the defective gene