Transcript Wilson`s Disease

Yurani Farfan
Mr. Trefz
Genetics
Wilson’s Disease
Wilson’s Disease?
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Wilson’s disease is a genetic
disorder in which the body
is receiving extra copper
in the body tissues. The
body receives copper from
certain foods like
mushrooms, turnip greens,
spinach, eggplant, cashews,
summer squash and most
other with enriched
vitamins. In Wilson
disease, copper builds up in
the liver, brain, eyes, and
other organs. Too much of
high level copper can cause
life-threatening organ
damages and poisoning in
the body tissues.
More Info about the ATP7B Gene
• Recent studies
showed that copper
transporting gene
ATP7B, which in its
mutated form causes
Wilson's disease,
and hope this would
lead to the design of
better therapies for
this disorder.
Wilson’s Disease
What does Copper do to the
body?
• Copper plays a big part in
our metabolism and also
maintains the functions in
the enzymes in our bodies.
Copper has another job in
bone development, tissue
reconnection, hair and skin
development. The average
human needs about 75-100
milligrams of copper in
their diet. Basically the
size of penny.
Who can get Wilson Disease?
• Wilsons disease is a rare
and common disease
found in humans. People
who have Wilson’s
disease inherit two copies
of a ATP7B gene that are
abnormal from the parent
gene. About 1 to 40,000
people have Wilson’s
Disease. It affects men
and women. The start of
Wilson’s Disease is
around the ages 5 to 35.
But other studies showed
that it can happen at the
age of 2 and 72.
Symptoms Of Wilson’s Disease
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Symptoms of this disease are…
Swelling of the Spleen
Yellowing in the skin and
whites in the eyes.
Fluid build up in the legs and
lower abdomen
You can bruise easily
Get tired really easily
Muscle stiffness
Problems with speaking,
swallowing and coordination
Low level of white blood cell
count
High level of amino acids,
protein, uric acids.
Mood swings
Exams & Tests
• When having a test for Wilson’s
disease, doctors will check for…
• Yellow in iris
• Limited movement in the eyes
• Physical examination of central
nervous system, coordination,
loss of thinking, stiffness in
muscles, and memory loss.
• Liver or spleen disorders
• Lab test will also look into
white blood cell count, copper,
and uric acid.
• Problems in the liver will be
tested for High AST & ALT , high
bilirbin , PT and PTT
• And Low Albumin
Diagnosis
• Patients who have
Wilson’s Disease should
be treated early. Because
patients who are treated
early won’t have to suffer
from complications of
poisoning in the body or
even death. Doctors will
check for a urine sample
of the patient, eye exam,
blood copper level, and
blood test.
Treatment
• Wilson’s Disease is a life long
disease. Therapy will have to
be in place. The therapy
removes excess copper in the
body before any poising in
the body occurs. Medication
is provided for Wilson’s
disease. Women who are
pregnant should take a less
amount of the medication.
The medication is dpenicillamine (Cuprimine)
and trientine hydrochloride
(Syprine). These both drugs
release the cooper in the
organs so they don’t build
up.
What to avoid!
• People who have
Wilson’s disease are on
a strict diet. They
cannot have a large
amount of copper. They
should avoid Chocolate,
Shellfish, dried fruit,
Mushrooms, and Nuts.
When drinking water
people with this
disease must have their
water checked out just
in case it has copper.
Biliography
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http://www.whfoods.com/genpage.php?tname=nutrient&dbid=53
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/#what
https://health.google.com/health/ref/Wilson's+disease
http://health.nytimes.com/health/guides/disease/wilsons-disease/overview.html
"ATP7B." Encyclopædia Britannica. 2009. Encyclopædia Britannica Online. 11 Nov. 2009
<http://www.britannica.com/EBchecked/topic/1525291/ATP7B>.