Cystic fibrosis[1]
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Cystic fibrosis[1]

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Cystic fibrosis[1] Cystic fibrosis[1] Presentation Transcript

  • By Ana Moura-Cook
  • • Cystic Fibrosis is a disease of the mucus glands that is inherited and affects many body systems, including the lungs and the pancreas.• The disease is caused by mutations in the CFTR gene. This gene affects the movement of water in tissues, which in turn affects whether the mucus will be thin or thick.• People with CF don’t have a good way to predict how long they will live as it greatly varies; however, mid-30’s is X-Ray of someone with CF the US average.
  • • The body produces thick and stickier mucus, which can block airways and cause lung damage.• The lung damage includes scar tissue (fibrosis) and cysts in the lungs.• Digestive problems also occur because the mucus blocks ducts in the pancreas.
  • • Dr. Fanconi wrote the earliest known paper documenting the disease in the 1930’s.• Shortly thereafter, Dr. Dorothy Anderson coined the name for it.• In the 1980’s the gene that mutated to cause CF was discovered.• In the 1990’s the first drug to target CF was approved and used.• Now, the life expectancy has multiplied by 6, from being just 5 yrs in the 1950’s to 30 or more in 2005.
  • To inherit CysticFibrosis, both ofyour parents needto be carriers of themutated gene.Since having CF isa recessive allele,you must behomozygousrecessive to inheritCF.
  • Cystic Fibrosis is mostcommon in Caucasians.• 1 person in 2,500-3,500 of the Caucasian population in the US inherits CF.In other ethnicities, it ismuch rarer.• 1 in 17,000 African Americans inherit CF.• 1 in 31,000 Asian Americans inherit CF.
  • • Coughing or wheezing• Excessive mucus in the lungs• Frequent lung infections (such as pneumonia and bronchitis)• Shortness of breath• Salty-tasting skin• Poor growth even with a big appetite
  • • Many states have newborn screening for CF now.• If the newborn screening test comes up positive, it isn’t a diagnose, but just a sign to have a follow-up.• Follow-up test tests salinity of the sweat, as well as special tests with blood or saliva. This test does give a diagnose.• If they aren’t diagnosed by newborn screening, they are diagnosed when the children are a little older and have begun to show symptoms.
  • • Before treatments, CF was called the “fatal disease of childhood”, because it was rare for someone with CF to live into adulthood.• However, with new treatments now, people with CF can live well into adulthood.• However, when they become older, men with CF are almost always infertile, because a canal in their reproductive system is blocked by the mucus.
  • The blue shapes indicate thepeople in the family that havecystic fibrosis. Thegrandfather, John James, hadcystic fibrosis, and one of hisdaughters, Sarah, and one ofhis sons, Michael, both gotCF. Of those two, betweenthem they had 3 children withCF: Anne, Dina, and John.The unaffected people in thefamily have white symbolsbecause they didn’t expressthe CF.
  • • Part of the regular treatment schedule that people living with CF need to follow is creating strong coughs to help clear mucus from airways.• Also, people need to take nutrition and drug therapies.• There are many approaches to managing CF. From drugs to clear airways, to antibiotics, there is a vast range.• A new breakthrough medicine is Kalydeco, which allows the mutated protein to work at the surface of the cell, therefore slightly curing the patient and thinning the mucus.• Eating right and staying healthy also helps greatly in managing CF.
  • • The Childhood Liver Disease and Education Network (chiLDREN) is a group that works on improving lives and finding cures for many diseases, including cystic fibrosis.• The Cystic Fibrosis Research Program is another group that works on researching and finding solutions for cystic fibrosis.• There are many clinical trials going on constantly from different companies and participants who have CF are always needed.
  • Gene therapy is the insertion of normal, functioningcells into a body that lacks them, and having thosenormal cells replace the mutated cells. Pros of Gene Therapy Cons of Gene Therapy• Could drastically change • Ethical questions and the world of diseases, questions of moral values including those that have • Chance that the body to do with genetic rejects the cells mutations, such as CF.• Could be a cure to hundreds of diseases.
  • • The Cystic Fibrosis Foundation (www.cff.org)• CysticLife.com• Reaching Out Foundation (www.reachingoutfoundation.org)In Massachusetts:• MassGeneral Hospital (http://www.massgeneral.org/children/services/treatmentp rograms.aspx?id=1598)• Also, CFF organizes walks and more locally for raising money and awareness of CF.
  • Visit websites listed in my bibliography, especially cff.org The Cystic Fibrosis Foundation is a comprehensive resource that provides information and support, locally and nationally. It is a great resource for anyone with CF.
  • • http://ghr.nlm.nih.gov/condition/cystic-fibrosis• http://marchofdimes.com/baby/birthdefects_cysticfibrosis.html• www.cff.org• http://rarediseases.info.nih.gov/GARD/Condition/6233/Cystic_fibrosis.aspx/Panel 2#Resources• http://www.aboutcysticfibrosis.com/cystic-fibrosis-history.htmImages• http://www.kincanada.ca/kinsmen-pages/en/content/17/Cystic-Fibrosis-Canada• http://www.slh.wisc.edu/genetics/genetics-and-family-history.dot• http://www.learningradiology.com/archives03/COW%20058- Cystic%20fibrosis/cysticfibrosiscorrect.htm• http://www.discern-genetics.org/discern_quality_criteria.php?q=1&g=5• http://cysticfibro.org/children-cystic-fibrosis/• http://cysticfibrosislifeexpectancy.net/can-cystic-fibrosis-be-cured/• http://www.bioquicknews.com/node/652• http://www.carinsurancecomparison.com/scientist-car-insurance-rates/• http://jinesis.wordpress.com/2010/05/01/death-at-25-blogging-the-end-of-a-life/