Wilson's Disease - Glossary

Glossary

Autosomal Recessive Disease-- An inherited disorder which is equally likely to occur in either sex. Wilson's disease is an autosomal recessive disease.

Ceruloplasmin-- A simple protein found in the blood which binds itself to copper so that copper may be moved about the body by the circulatory system. Over 90% of Wilson's disease patients have abnormally low levels of blood ceruloplasmin.

Chelate-- A particular type of chemical reaction with a metal (such as copper). Many drugs used to treat Wilson's disease "chelate" copper into a form which patients bodies can eliminate.

Cirrhosis-- a disease of the liver in which normal cells are replaced by scar tissue, which inhibits the organ's many functions.


Dysphagia-- Difficulty in swallowing. It is common for the swallowing reflex to be impaired in persons with Wilson's, things oftentimes "go down the wrong tube."

Dystonia-- Involuntary movements and prolonged muscle contraction. The type of dystonia caused by Wilson's disease causes patients to hold part of their body in an unnatural position.

Gastroenterology-- The diagnosis and treatment of diseases of the digestive system

Gene-- A part of the DNA molecule which is responsible for the development of a certain characteristic.

Jaundice-- A yellowing of the skin and whites of the eyes usually caused by diseases of the liver or bile ducts.

Kayser-Fleischer Rings-- Discoloration of the outer membrane of the iris caused by copper deposits. Although the ring is not present in all patients, it is never present in a person without Wilson's disease.

Liver biopsy-- A procedure, usually done while the patient is awake, in which a small piece of the liver is extracted with a special needle.

Penicillamine-- Perhaps the most commonly used drug for the treatment of Wilson's disease. It is a variant of penicillin and is also used in the treatment of rheumatoid arthritis. Its brand names are Cuprimine and Depen.

Renal-- Relating to the kidney. Wilson's disease patients can sometimes cause the kidney to not function correctly.

Trientine-- A copper chelator sometimes used in the treatment of Wilson's.

Zinc acetate-- A drug used in maintenance therapy for Wilson's disease that works by blocking absorption of copper in the digestive system, therefore preventing further copper accumulation. A person must first be "decoppered" by a chelating agent.

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