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Wilson's Disease


Description

WilsonÕs disease is a genetic disorder that results in copper excess. Onset of WilsonÕs Disease is usually in late childhood. Hepatitis symptoms usually appear before age 30. Central nervous system symptoms usually appear after age 30.



Symptoms

tremulousness, abdominal pain, dystonia

loss of fine hand motor function - writing, piano playing

excessive salivation and drooling

psychiatric symptoms, hepatic failure symptoms



Signs

Kaiser-Fleischner rings - brownish opacity around edge of cornea

hepatomegaly, splenomegaly, blue nail lunulae

resting and intention tremors, dysarthria, ataxia, rigidity



Course

chronic illness leading to death before age 30 without treatment



Complications

portal hypertension, hypersplenism, hemolytic anemia

proximal tubule Fanconi syndrome



Causes

WilsonÕs disease is caused by defective copper excretion with deposition in liver and basal ganglia. Diminished ceruloplasm synthesis causes decreased binding.

Conventional Labs

ceruloplasm < 20 ugm %

uric acid decreased due to poor proximal tubule reabsorption

thrombocytopenia

 

 

 

 

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