TY - JOUR
T1 - Wilson's disease. Update of a systemic disorder with protean manifestations
AU - Cuthbert, J. A.
N1 - Funding Information:
The author thanks Dr. Jonathan Gitlin for his assistance. This work was supported by the Department of Internal Medicine, The University of Texas Southwestern Medical Center.
PY - 1998
Y1 - 1998
N2 - In Wilson's disease, a genetic defect in a copper transporter causes defective incorporation of copper into apo-ceruloplasmin and the failure to excrete copper into bile. Copper accumulated in hepatocytes generates damage via reactive oxygen species. Release of copper from necrotic hepatocytes leads to damage of other tissues, including the brain, urinary tract, red blood cells, heart, endocrine glands, skin, pancreas, bones, and joints. Treatment is designed to chelate the excess copper for urinary excretion, prevent copper absorption, and render tissue copper nontoxic. Liver transplantation, with replacement of the defective hepatic gene, may be necessary in some cases.
AB - In Wilson's disease, a genetic defect in a copper transporter causes defective incorporation of copper into apo-ceruloplasmin and the failure to excrete copper into bile. Copper accumulated in hepatocytes generates damage via reactive oxygen species. Release of copper from necrotic hepatocytes leads to damage of other tissues, including the brain, urinary tract, red blood cells, heart, endocrine glands, skin, pancreas, bones, and joints. Treatment is designed to chelate the excess copper for urinary excretion, prevent copper absorption, and render tissue copper nontoxic. Liver transplantation, with replacement of the defective hepatic gene, may be necessary in some cases.
UR - http://www.scopus.com/inward/record.url?scp=0031787511&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031787511&partnerID=8YFLogxK
U2 - 10.1016/S0889-8553(05)70025-X
DO - 10.1016/S0889-8553(05)70025-X
M3 - Article
C2 - 9891702
AN - SCOPUS:0031787511
SN - 0889-8553
VL - 27
SP - 655
EP - 681
JO - Gastroenterology Clinics of North America
JF - Gastroenterology Clinics of North America
IS - 3
ER -