Cystic Fibrosis
· Symptoms
· Incidence
in People of Jewish Descent
· Diagnosis
· Treatment
· Screening
· Resources
and More
Cystic Fibrosis is an inherited disorder that causes problems with breathing
and digestion. The majority of people stricken with Cystic Fibrosis are diagnosed
in childhood.
Symptoms
· Chronic cough
· Wheezing
· Nasal polyps
· Excessive production of mucus
· Frequent pneumonia
· Foul smelling, clay color, pale,
floating stools
· Salty sweat and skin
· Clubbing of the fingers and toes
· Easily fatigued
· Enlarged spleen
· Weight loss
· Delayed growth
· Men with Cystic Fibrosis are usually
infertile.
Average survival is approximately 30 years.
Incidence
Cystic Fibrosis affects approximately 30,000 children and young adults in the
US. Cystic Fibrosis may occur in any nationality or ethnic group. One in twenty
five Caucasians in the United States is a carrier. One in twenty nine Ashkenazi
Jews is a carrier. This carrier frequency makes Cystic Fibrosis about as common
in Ashkenazi Jews as Tay-Sachs Disease. Actually Ashkenazi Jews are at a lower
risk of being carriers than any other ethnic population.
The disease is transmitted through heredity. Both parents have to carry the
Cystic Fibrosis gene for there to be a possibility of transmission to their
child. If both parents are carriers:
· There is a one in four chance that
the child will inherit the Cystic Fibrosis gene from each parent and have the
disease
· There is a one in four chance that
the child will inherit normal genes from both parents and be completely free
of the disease.
· There is a two in four chance the
child will inherit one of each kind of gene and be a carrier like the parents,
and free of the disease.
Diagnosis
· SWEAT TEST - will show high levels
of salt in sweat.
· FECAL FAT – will show mal-absorption
of fat
· BONE X-RAY
· BLOOD CHEMISTRY – inadequate absorption
of minerals in the intestines cause malnutrition
· SMALL BOWEL SERIES – will show
mal-absorption
· CHEST MRI
Treatment
· Medications: Antibiotics for infections,
pancreatic enzymes (occasionally mucomyst is used to thin secretions)
· Ibuprofen – This painkiller has
been shown on studies to slow lung deterioration in children ages five to thirteen.
· Breathing Treatments: Percussions,
and postural drainage.
· Lung Transplant: May be an option
in some cases
· Genetic Research - Clinical Trials
are now being conducted on inhalation therapies and gene transfer therapy.
Screening
There is a carrier screening test
which requires a sample of blood that can determine whether or not a gene change
is present in the gene for Cystic Fibrosis.
Prenatal diagnosis for Cystic Fibrosis can be attained with the use of CVS (chorionic
villus sampling) or
amniocentesis, which are performed early in the pregnancy.
Resources
and More
Cystic Fibrosis Foundation
6931 Arlington Rd.
Bethesda, MD 20814
Toll Free: 800-FIGHTCF
Telephone: 301-951-4422
Fax: 301-951-6378
For adult cystic fibrosis treatment
Presbyterian Medical Center
51 N. 39th Street
1st Floor, Philadelphia Heart Institute Building
Philadelphia, PA 19104