Wilson's disease is an inborn error of copper metabolism characterised by deposition of copper in, and damage to, the liver (cirrhosis), brain basal ganglia, proximal renal tubule (Fanconi syndrome), and the cornea of the eye (Kayser-Fleischer rings). The plasma caeruloplasmin level is usually low and the urinary copper level high, reflecting the high level of plasma free copper. The definitive diagnosis depends on demonstration of excess copper in the liver.
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