Diagnosis and treatment of Wilson's disease.
Wilson's disease (WD) is an autosomal recessive disease that causes increased copper deposition in the liver and basal ganglia with resultant hepatic and neurologic sequelae. In the past few years, dramatic new discoveries have changed our understanding of the pathophysiology of WD. Although there are potentially life-saving therapies for WD, there is much controversy surrounding the optimal treatments of patients in the various stages of the disease. Specifically, the relative roles of penicillamine, trientene, and tetrathiomolybdate in the initial treatment of the symptomatic patient with WD remain to be defined. Zinc monotherapy for maintenance treatment and in the treatment of asymptomatic patients with WD is still controversial. It is also unclear whether neurologic status alone is an indication for liver transplantation in WD. This paper reviews the pathogenesis, genetics, clinical presentation, and diagnosis, with a special emphasis on the treatment controversies that arise in the care of the WD patient.
Subramanian
Indu
I
Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095, USA.
Vanek
Zeba F
ZF
Bronstein
Jeff M
JM
D002614:Chelating Agents / Q000627:therapeutic use*; D003300:Copper / Q000009:adverse effects / Q000378:metabolism*; D004112:Dimercaprol / Q000627:therapeutic use; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D008982:Molybdenum / Q000627:therapeutic use; D010396:Penicillamine / Q000627:therapeutic use; D014266:Trientine / Q000627:therapeutic use; D015032:Zinc / Q000627:therapeutic use
D002614:Chelating Agents; D004791:Enzyme Inhibitors; D004112:Dimercaprol; D003300:Copper; D008982:Molybdenum; C020809:tetrathiomolybdate; D010396:Penicillamine; D015032:Zinc; D014266:Trientine