Cystic Fibrosis (SIS-tik fi-BRO-sis)
By: Eleftheria Ria Karoutis
What is Cystic Fibrosis?
•Cystic fibrosis is also known as CF•Inherit two faulty genes for the disease•Mainly affects lungs, pancreas, liver,
intestines, sinuses, and sex organs.
Causes of the disorder..
•CF cannot be "caught" like a cold or the flu•Caused by a mutation in a gene called the
cystic fibrosis transmembrane conductance regulator (CFTR)
•Can only get it if his/her parents both are carriers.
•Boys and girls are equally likely to have CF.•Researchers noticed higher levels of some
essential fatty acids in people with CF.
What are the symptoms?•CF causes the body to produce large amounts
of thick mucus•Affects the lungs, digestive and reproductive
systems•Mucus in the airways causes wheezing,
coughing, and trouble breathing•Large amounts of mucus blocking the
pancreas prevents enzymes from being released
•98% of men are infertile, women can bear children but can pass down CF
•Can develop diabetes, or suffer from liver and lung damage
How is it inherited?
•A double recessive allele is needed for cystic fibrosis to be apparent
•Found on chromosome 7•Chloride channel protein that is critical
for normal functioning of multiple organs
Is there a treatment?•Back in the 50s patients had a life
expectancy of only 5 years•Before antibiotics were available
approximately 75% of children with CF died before the age of ten
•Treatments will vary from person to person •Vibrations to help loosen the mucus •Mucus thinners, antibiotics, anti-
inflammatories, and bronchodilators •Enzyme supplements
Who does it affect?Like any other defect, Cystic Fibrosis affects the
patients, the patients family and society as a whole.
Impact on society..http://www.youtube.com/watch?v=4KHb33WUQEU
Recent advances/direction of current research•The gene responsible for cystic fibrosis was
only discovered in 1989•Scientists have made steady progress in
understanding CF and developing strategies to defeat it
•Foundation’s provide the resources and support for studies that are leading to important new therapies and better treatment
•Discoveries are being turned into potential drugs that attack both the symptoms of CF and the cause (faulty gene)
Are there any research foundations/ support groups/ charities?
Bibliography•Children with Exceptionalities in Canadian
Classrooms- Margret Winzer (book)•http://
www.medicalnewstoday.com/articles/147960.php
•http://bodyandhealth.canada.com/channel_condition_info_details.asp?channel_id=2048&relation_id=110053&disease_id=41&page_no=2
•http://en.wikipedia.org/wiki/Cystic_fibrosis•http://
answers.yahoo.com/question/index?qid=20071013230224AA8JwPI
•http://www.cfedmonton.ca/help.html