Cystic FibrosisBy Ana Moura-Cook

What is Cystic Fibrosis?• 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 the US average.

X-Ray of someone with CF

What happens?• 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.

History of Cystic Fibrosis• 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.

How do you inherit Cystic Fibrosis?To inherit Cystic Fibrosis, both of your parents need to be carriers of the mutated gene. Since having CF is a recessive allele, you must be homozygous recessive to inherit CF.

How common is Cystic Fibrosis?

Cystic Fibrosis is most common in Caucasians.• 1 person in 2,500-

3,500 of the Caucasian population in the US inherits CF.

In other ethnicities, it is much rarer.• 1 in 17,000 African

Americans inherit CF.• 1 in 31,000 Asian

Americans inherit CF.

Disease Symptoms• 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

How is Cystic Fibrosis diagnosed?• 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.

Prognosis (Future Outcome)• 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.

Pedigree Chart of Cystic Fibrosis

The blue shapes indicate the people in the family that have cystic fibrosis. The grandfather, John James, had cystic fibrosis, and one of his daughters, Sarah, and one of his sons, Michael, both got CF. Of those two, between them they had 3 children with CF: Anne, Dina, and John. The unaffected people in the family have white symbols because they didn’t express the CF.

Recommended Treatments• 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.

Ongoing Clinical Trials• 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

Pros of Gene Therapy• Could drastically

change the world of diseases, including those that have to do with genetic mutations, such as CF.

• Could be a cure to hundreds of diseases.

Cons of Gene Therapy

• Ethical questions and questions of moral values

• Chance that the body rejects the cells

Gene therapy is the insertion of normal, functioning cells into a body that lacks them, and having those normal cells replace the mutated cells.

CF Support Groups• 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/treatmentprograms.aspx?id=1598)

• Also, CFF organizes walks and more locally for raising money and awareness of CF.

For More Information

Visit websites listed in my bibliography, especially cff.orgThe Cystic Fibrosis Foundation is a comprehensive resource that provides information and support, locally and nationally. It is a great resource for anyone with CF.

Bibliography• 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_fibro

sis.aspx/Panel2#Resources• http://www.aboutcysticfibrosis.com/cystic-fibrosis-history.htm

Images• http://www.kincanada.ca/kinsmen-pages/en/content/17/Cystic-Fibr

osis-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-r

ates/• http://jinesis.wordpress.com/2010/05/01/death-at-25-blogging-the

-end-of-a-life/