[Wilson's disease].
Wilson's disease is a rare autosomal recessive disorder of hepatic copper transport leading to a biliary excretion inhibition of copper. Overload of the metal mainly in liver and basal ganglia leads to hepatic but also to extrapyramidal motor as well as psychiatric clinical symptoms. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination and a liver biopsy. A radiocopper test is able to identify patients even with inconsistent laboratory results. For initial assessment and follow-up neurophysiological investigation and MRI are recommended additionally. Genetic analysis can be helpful to detect asymptomatic relatives of the index patient. Dependent on the stage of the disease for therapy chelating drugs and zinc are possible but must be given lifelong without longer interruptions. With early diagnosis and consequent treatment the prognosis of Wilson's disease is excellent and usually the need for liver transplantation can be prevented.
Günther
P
P
Klinik und Poliklinik für Neurologie, Universität Leipzig. peter.guenther@medizin.uni-leipzig.de
Hermann
W
W
Kühn
H-J
HJ
Wagner
A
A
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001706:Biopsy; D002570:Ceruloplasmin / Q000032:analysis; D002614:Chelating Agents / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D003300:Copper / Q000097:blood / Q000378:metabolism; D018450:Disease Progression; D005260:Female; D005544:Forecasting; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D011379:Prognosis; D011788:Quality of Life; D013997:Time Factors; D015032:Zinc / Q000008:administration & dosage / Q000627:therapeutic use
D002614:Chelating Agents; D003300:Copper; D002570:Ceruloplasmin; D015032:Zinc