Cystic Fibrosis

Isabel Sondey
History of the Disease

First Reference to Cystic Fibrosis Anderson Creates Disorder Description

People noticed that many babies and infants with American Pathologist Dr. Dorothy Anderson creates
“salty skin” died, but believed it was because they first description of disorder in medical literature.
were bewitched. Outlined symptoms but didn’t help with treatment.

1595 1949

MIDDLE AGES 1938

Referenced in Medical Works Anderson Discovers Mutant Gene
Statements of salty skin/pancreas damage Dr. Anderson discovers that CF is caused by a
being linked to death of children/infants recessive mutant gene. This allows for
appear in medical texts development of treatment.
 Mutation Mutation
F508del Other Genes

○ Sometimes called delta F508

○ Less common mutations produce milder
○ F508del causes the most common CF
symptoms than F508del
symptoms
○ Other rare mutations cause symptoms just as
○ Effects of this mutation can vary in different
severe.
people
○ More detailed information about the specific
○ Some F508del mutation may have more severe
mutation that you carry with genetic screening
CF symptoms than others.
Symptoms

○ Very salty-tasting skin

○ Persistent coughing,
○ Frequent lung infections
○ Wheezing/shortness of breath
○ Poor growth or weight gain
○ Male infertility
Treatment Methods

Antibiotics Chest PT Surgery

Antibiotics to treat and Loosens thick mucus in lungs Used if life-threatening

prevent lung infections complications occur

● Anti-inflammatory meds lessen ● Helps loosen mucus ● Lung transplant

lung swelling in the airways ● Usually done 1-4 times a day ● Feeding tube
● Oral pancreatic enzymes to ● Clap cupped hands on ● Endoscopic sinus surgery
help digestive tract absorb front/back of chest
nutrients
 Identification
Genetic Testing

- DNA is taken from cells in a blood sample or

from cells scraped from the mouth
- More than 10 million Americans are carriers
of one mutation of the CFTR gene
- Chances of being a carrier of one CFTR
genes or having CF depend on race/
ethnicity

https://docs.google.com/spreadsheets/d/1mCuka
CDEZTSz2Ko3QGLFBkF5xJ6WlV_FK6RXUhzKqS4/e
Works Cited
“About Cystic Fibrosis.” CF Foundation, www.cff.org/What-is-CF/About-Cystic-Fibrosis/.

“Cystic Fibrosis Bacterial Burden Begins during First Years of Life.” ScienceDaily, ScienceDaily, 19 Jan. 2018,

www.sciencedaily.com/releases/2018/01/180119141236.htm.

“Cystic Fibrosis.” Edited by Floyd R. Livingston Jr., KidsHealth, The Nemours Foundation, Apr. 2014,

kidshealth.org/en/kids/cystic-fibrosis.html.

“Cystic Fibrosis.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 13 Oct. 2016,

www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.

“Your Cystic Fibrosis Community.” CysticFibrosis.com, cysticfibrosis.com/.