Diagnosis and treatment of Wilson's disease.
Wilson's disease is due to an inherited defect in copper excretion into the bile by the liver. The resulting copper accumulation and copper toxicity results in liver disease, and in some patients, brain damage. Patients present, generally between the ages of 10 and 40 years, with liver disease, neurological disease of a movement disorder type, or behavioral abnormalities, and often with a combination of these. Because Wilson's disease is effectively treated, it is extremely important for physicians to learn to recognize and diagnose the disease. Treatment options have evolved rapidly in the last few years, with zinc now being the drug of choice in most situations.
Brewer
G J
GJ
University of Michigan, Departments of Human Genetics and Internal Medicine, USA.
Fink
J K
JK
Hedera
P
P
D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D003300:Copper / Q000037:antagonists & inhibitors / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008107:Liver Diseases / Q000209:etiology; D009154:Mutation; D009422:Nervous System Diseases / Q000209:etiology
D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases