An inherited disorder that causes too much copper to accumulate in the organs.In Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. Symptoms typically begin between the ages of 12 and 23.
• Symptoms of cirrhosis (jaundice, portal hypertension, splenomegaly) or chronic atypical hepatitis.
• Basal ganglion dysfunction like rigidity, Parkinsonian tremor.
• Kayser-Fleischer rings are pathognomonic (fine pigmented granular deposits in membrane of the cornea).
• Low serum ceruloplasmin (less than 20 mg), increa- sed urinary copper excretion.
Investigation:- Liver biopsy,LFT,CBC ,URINE TEST ,SCANNING (USG/CT)
-Oral Penicillamine 1 to 1.5 gm daily in divided doses is the drug of choice, to be continued indefinitely.
-If patient is intolerant to Penicillamine, Triethylene teramine may be tried.