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Wilson's disease
Wilson's disease is a hereditary disease which causes the body to retain
copper.
Description
The liver of a person who has Wilson's disease expresses a mutant form
of the protein called Wilson's disease protein,or WND. WND is a copper transporting
protein that exports copper from liver cells. The mutant form of WND expressed
in people with Wilson's disease inhibits the release of copper into bile.
Bile is a liquid produced by the liver that helps with digestion. As the
intestines absorb copper from food, the copper builds up in the liver and
injures liver tissue. Eventually, the damage causes the liver to release
the copper directly into the bloodstream, which carries the copper throughout
the body. The copper buildup leads to damage in the kidneys, brain, and
eyes. If not treated, Wilson's disease can cause severe brain damage, liver
failure, and death.
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Symptoms
Symptoms usually appear between the ages of 6 and 20 years, but sometimes
not until the age of 30, and in rare instances up to age 50. The most characteristic
sign is the Kayser-Fleischer ring--a rusty brown ring around the cornea
of the eye that can be seen only through an eye exam. Other signs depend
on whether the damage occurs in the liver, blood, central nervous system,
urinary system, or musculoskeletal system. Many signs would be detected
only by a doctor, like swelling of the liver and spleen; fluid buildup in
the lining of the abdomen; anemia; low platelet and white blood cell count
in the blood; high levels of amino acids, protein, uric acid, and carbohydrates
in urine; and softening of the bones. Some symptoms are more obvious, like
jaundice, which appears as yellowing of the eyes and skin; vomiting blood;
speech and language problems; tremors in the arms and hands; and rigid muscles.
Diagnosis
Wilson's disease is diagnosed through tests that measure the amount of
copper in the blood, urine, and liver. An eye exam would detect the Kayser-Fleischer
ring.
Treatment
The disease is treated with lifelong use of D-penicillamine or trientine
hydrochloride, drugs that help remove copper from tissue. Patients will
also need to take vitamin B6 and follow a low-copper diet, which means avoiding
mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Taking extra
zinc may be helpful in blocking the intestines' absorption of copper.
Wilson's disease requires lifelong treatment. If the disorder is detected
early and treated correctly, a person with Wilson's disease can enjoy completely
normal health.
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