Ashkenazi Disorders: Mendelian

Cystic Fibrosis

Cystic fibrosis (CF) is a progressive disorder that causes the body to produce an abnormally thick, sticky mucus which is present in the lungs and digestive system. There are a variety of symptoms including frequent respiratory infections, poor weight gain, and progressive lung damage. Treatment of CF depends upon the stage of the disease and the organs involved. The condition is life shortening. The average age of death is in the early 30’s. Although CF is no more common among Ashkenazi Jews than it is among other caucasians, it is one of the most common genetic disorders among Jews and non-Jews alike.

Disease frequency:One in every 3,200 live Caucasian births.
Carrier frequency:Approximately 1 in 25 in Caucasians and similar frequency in those of Jewish ancestry.
Diagnosis:By measuring amount of salt in sweat (“sweat test”) or by testing the CF gene.
Inheritance:Autosomal Recessive
Carrier testing:Available by testing the CF gene.
Prenatal diagnosis:Available by testing the CF gene

Technical Information on Cystic Fibrosis

Additional Information:
Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, MD 20814
www.cff.org

Cystic Fibrosis Resources
http://vmsb.csd.mu.edu/~5418lukasr/cystic.html