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Wilson's disease 

Wilson's disease
Chapter:
Wilson's disease
Source:
Paediatric Gastroenterology, Hepatology and Nutrition (Oxford Specialist Handbooks in Paediatrics) (1 ed.)
Author(s):

R. Mark Beattie

, Anil Dhawan

, and John W.L. Puntis

DOI:
10.1093/med/9780198569862.003.0056

Clinical features 412

Diagnosis 413

Management 414

Indications for liver transplantation 415

Wilson's disease (WD) is an autosomal disorder of copper metabolism. The gene ATP7B codes for a copper carrier which both exports copper from hepatocyte to bile, and enables caeruloplasmin synthesis.

WD occurs worldwide with reported incidences of 5–30 per million population. WD may present with almost any variety of liver disease in the age group 3–12 years, with psychiatric and/or neurological disease in adolescence or young adults, with combined hepatic and neurological problems, or less commonly with haemolysis or arthritis....

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