2. WHAT IS WILSON’S DISEASE?
• A copper-transporting P-ATPase that is expressed in all tissues except liver is defective in this
disease
• Wilson’s disease occurs in 1 in 35,000–100,000 newborns and is characterized by failure to
incorporate copper into ceruloplasmin in the liver and to excrete copper from the liver into
bile, resulting in toxic accumulation of copper in the liver and also in the kidney, brain, and
cornea. Liver cirrhosis, progressive neurologic damage.
3. • liver’s capacity to synthesize ceruloplasmin is compromised.
• The cause is mutations in the gene coding for the ATP7B ATPase. This results in
a reduced incorporation of copper into ceruloplasmin and in its cellular
accumulation.
• The excess apoceruloplasmin is degraded. Copper accumulates in tissues such
as the brain and cornea.
• Patients present with neurologic symptoms or liver cirrhosis and have typical
Kaiser–Fleischer rings in the cornea. There is also a low plasma concentration of
ceruloplasmin and high urinary copper excretion
4. CLINICAL FEATURE
• Hepatolenticular degeneration and cirrhosis
• Deposit in brain basal ganglia lead to lenticular degeneration and neurological
symptoms
• Copper deposits as green or golden pigmented ring around cornea ; this
called kaiser-Fleischer ring
• Low plasma concentration of ceruloplasmin and high urinary copper excretion
5.
6. TREATMENT
• Diet containing low copper
• Injection of D-penicillamine which excretes copper through the urine.
• Since decreases copper absorption , zinc is useful in therapy
