Bio 100 December 6th, 2018
What is Cystic Fibrosis? Who gets it? How common is it?
Cystic fibrosis is an inherited disorder that causes severe damage to the
lungs, digestive system and other organs in the body.
Although Cystic Fibrosis occurs in all races, it is most common among
people of Northern European ancestry. 75% of diagnosis take place
before the age of 2. The life expectancy is about
37 years old.
Occurs in 1 to 3,500 white newborns,
1 in 17,000 African Americans,
1 in 31,000 Asian Americans.
(U.S. National Library of
Signs and Symptoms
Higher than normal level of salt in the affected persons sweat.
Persistent cough that produces thick mucus, wheezing, breathlessness,
exercise intolerance, repeated lung infections, stuffy nose.
Foul-smelling greasy stools, poor weight and growth,
intestinal blockage (meconium ileus),
Affects the lungs and digestive systems.
Cystic Fibrosis disrupts the normal function of epithelial cells.
Newborn Screening - All States screen newborns for CF using a genetic
test or a blood test.
Sweat test - sweat is collected on a pad or paper and then analyzed for
high levels of salt in order to confirm the diagnosis of cystic fibrosis.
Chest & Sinus X-ray, lung function test, prenatal screening and carrier
Life expectancy is about 37 years, death is most
often caused by lung complications.
The history behind the disease
The disease is said to have emerged around 3,000 BC because of
migration of people, new genes, and new living conditions.
"Wehe dem Kind, das beim Kuß auf die Stirn salzig schmeckt, es ist
verhext und muss bald sterben" or "Woe to the child who
tastes salty from a kiss on the brow, for he is cursed
and soon must die"
Dorothy Hansine Andersen is most notable because she
was the first to recognize the disease and create a diagnosis
test. Many others have written about deaths and cases of
the disease but did not recognize it as Cystic
What causes the disease?
Cystic Fibrosis is caused by a mutation that causes the deletion of 3
nucleotides that results in the loss of the amino acid phenylalanine on the
7th chromosome. The product of this is a defective protein that is crucial
to controlling water balance in cells. When water balance is abnormal in
your glands such as your lungs, pancreas, etc., it secretes a thick mucus
making it hard to breath, and also causes problems in your digestive
The Science behind the disease
Cystic Fibrosis is an autosomal recessive mutation meaning in order to
show signs and symptoms you must inherit 2 defective genes from your
parents. Approximately 1 in every 25 people with European decent is a
carrier but shows no symptoms.
Cystic Fibrosis Treatments
Medications: such as anti-inflammatories to
reduce swelling of various affected organ
systems, decongestants to avoid mucus build up,...