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Cystic Fibrosis

Lauren Jemilo. Cystic Fibrosis. History. First recognized in 1938 by Dorothy Hansine Andersen She did a pathological study Wrote The American Journal of Diseases of Children. How is it recognized?. Individuals with cystic fibrosis are diagnosed: Before birth Genetic Testing “Sweat Test”

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Cystic Fibrosis

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  1. Lauren Jemilo Cystic Fibrosis

  2. History • First recognized in 1938 by Dorothy Hansine Andersen • She did a pathological study • Wrote The American Journal of Diseases of Children

  3. How is it recognized? • Individuals with cystic fibrosis are diagnosed: • Before birth • Genetic Testing • “Sweat Test” • Measures the concentration of chloride in sweat, which is usually higher than others

  4. Recognizing the Disease • Those affected can exhibit any of the following • Low Growth Rate • Difficulty Breathing • Frequent Lung and Sinus Infections • Could lead to needed lung transplant • Infertility • Shorter lifespan • Issues with bowels/digestive system • “Salty Skin” • Extra amounts of chloride in sweat

  5. What went wrong? • A defect in a CFTR gene (cystic fibrosis transmembrane conductance regulator) • This gene makes a protein that regulates the movement of salt in and out of the body • Found on the 7th chromosome pair

  6. Pedigree

  7. What really went wrong? • Everyone inherits 2 CFTR genes from their parents • If they inherit one faulty CFTR gene, they are a carrier • If they inherit two fault CTFR genes, they are affected by the disease • This makes Cystic Fibrosis an “autosomal recessive” disease

  8. Treatment • There is no cure for cystic fibrosis • Treatment can vary by how severe the case is • Pancreatic Enzymes (to ease disgestion problems) • Bronchodialators (to ease airflow) • Mucus thinning drugs (mucus of affected is rather thick, which is the cause of most problems)

  9. Treatment Cont. • Antibiotics (to stop infections) • Lung transplant (when damage from mucus is so high)

  10. Stats • 30,000 affected people in America • Ranked as one of the most widespread life-threatening diseases • Most prevalent in Europe • Affects Caucasians most • 1 in 19 are carriers in Ireland • Ireland has the highest number of children suffering

  11. Sources • http://bit.ly/DkvHo • http://bit.ly/f6h0qk • http://1.usa.gov/iazgwp • http://bit.ly/i8p8OG

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