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Cystic Fibrosis Introduction |
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Cystic fibrosis
(CF) is a rare genetic disorder that
is inherited from both parents.
Cystic Fibrosis is caused by a
defective gene that codes for a
protein responsible for salt (sodium
chloride) transport in the body's
exocrine glands. Cystic
Fibrosis causes different glands
in the body to be defective,
including the bronchial glands,
pancreas, sweat glands, and glands
of the digestive system.
Cystic Fibrosis is the most common
autosomal recessive genetic disorder
in Caucasians. This condition
affects Caucasians with northern
European ancestry more frequently
than other populations. Men
and women are affected equally. |

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Primary Organs Affected:
Lungs: The
glands in the lungs and bronchial
tubes produce a thick, sticky mucus
that creates blockages in the air
passages, resulting in breathing
difficulties, lung infections, and
pneumonia.
Pancreas: The
pancreas fails to produce certain
digestive enzymes, which, usually,
leads to nutritional malabsorption,
difficulties with fat metabolism,
diarrhea, and foul-smelling stools.
Due to the many problems associated
with malnutrition, a child with
Cystic Fibrosis is often
underweight and undersized.
Liver:
Digestion and overall liver
functioning is disrupted by the
plugging of small bile ducts.
Skin: Persons
with this condition may exhibit
bouts of profuse sweating, caused by
the malfunctioning of sweat glands.
This often causes the loss of
excessive concentrations of mineral
salts, especially salts.
Small Intestines:
Roughly 1 in 10 newborns will
require surgery to remove thick
stools, obstructing the gut.
Reproductive:
There is often an absence of small
ducts in persons suffering from
Cystic Fibrosis, such as the vas
deferans. This renders one
infertile.
Cystic Fibrosis is fatal,
with a median survival of 30 years.
The Cystic Fibrosis gene was
identified in 1989. This
discovery has enabled researchers to
begin developing new approaches to
treatment through gene therapy.
A cystic fibrosis
patient may have any or all of the
following symptoms:
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Recurrent chest
infections with a cough and
difficulty breathing
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Diarrhea
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Greasy,
foul-smelling stools
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Swollen abdomen and
wasted limbs
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Clubbing of the
fingers and toes
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Salty skin
According to the
Cystic Fibrosis Foundation (1):
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Cystic Fibrosis
affects about 30,000 people in the
US, 20,000 Europeans, and 3,000
Canadians
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Approximately 12
million people are carriers in the
US
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1 in 22 Caucasians
are Cystic Fibrosis carriers
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About 2,500 babies
will be born with Cystic Fibrosis
this year.
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Cystic Fibrosis
affects 1 in every 1,600 births in
Caucasians, 1 in every 13,000
births in African Americans, and 1
in every 50,000 births in Asian
Americans
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Cystic Fibrosis |
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