dr Akshay Kapoor
Pediatric Gastroenterologist
BLK Super Speciality Hospital
About Author

Wilson’s disease may present symptomatically at any age, although the majority presents between ages 5 and 35. Presentation can be multisystemic. Hepatic involvement can vary from asymptomatic transaminitis to fulminant hepatic failure or chronic hepatitis and cirrhosis. Coombs negative hemolytic anemia and neuropsychiatric manifestations are some of the other common manifestations. Less common manifestations include gigantism, and renal abnormalities including aminoaciduria and nephrolithiasis, hypercalciuria and nephrocalcinosis. Diagnosis is made when at least three of the following five criterias are met-

  1. Low serum ceruloplasmin,
  2. Presence of KF ring, and
  3. Elevated 24 hour urine copper.
  4. Genetic test conducive
  5. Confirmed Case of Wilson’s Disease in Family

Treatment is by giving copper chelators viz. D – Penicillamine.

Posted On: 27/06/2018

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