Wilson disease

Wilson disease

- Copper accumulation in liver, brain and eyes (Descemet Membrane = Kayser-Fleischer ring)

- Decreased ceruloplasmin blood levels.

- Chromosome 13, WD gene, ATP7B gene (encondes for Copper transporting ATPase)

- Lesion in basal ganglia, especially putamen

- Tx: penicillamine, zinc acetate.

Symptoms: tremor, asterixis, parkinsonian sx, chorea, neuropsychiatric, fatty changes, hepatitis, cirrhosis.

Best initial test: 

Slit-lamp examination for Kayser-Fleischer rings (brown ring around eye due to copper deposition)

Most accurate test: 

Penicillamine challenge => abnormal increased amount of urinary copper excreation after Penicillamine.

Related Questions GastroInstestinal System

- Copper accumulation in liver, brain and eyes (Descemet Membrane = Kayser-Fleischer ring)

- Decreased ceruloplasmin blood levels.

- Chromosome 13, WD gene, ATP7B gene (encondes for Copper transporting ATPase)

- Lesion in basal ganglia, especially putamen

- Tx: penicillamine, zinc acetate.

Symptoms: tremor, asterixis, parkinsonian sx, chorea, neuropsychiatric, fatty changes, hepatitis, cirrhosis.

Best initial test: 

Slit-lamp examination for Kayser-Fleischer rings (brown ring around eye due to copper deposition)

Most accurate test: 

Penicillamine challenge => abnormal increased amount of urinary copper excreation after Penicillamine.