Background and objective: Wilson disease (WD) is disorder of copper metabolism caused by an autosomal recessive mutation 13q14.3 in ATP7B gene. WD’s clinical manifestations are injured at liver, brain, eyes, kidneys, joints, bones, etc. which accounts for 40-50% of liver damage. The diagnosis and prompt treatment will help WD’s patients limit the complications of the disease and improve quality of life for them. The aim is to describe clinical characteristics, laboratory finding and follow up of WD patients after treatment.
Methods: The retrospective description.
Results: A total of 46 patients (28 males:18 females) were diagnosed WD based on Leipzig 2001 standard at Hepatology Department in NHP from 12/2013 to 1/2015. The average age at diagnosis: 12±0.25 years old. Symptoms of onset was persistent transaminase increase (78.7%), liver failure, decrease ceruloplasmin <0.2 mg/dL (97.5%), copper in the urine increased >100 µg/24 h (100%). All of patients were treated with D-penicillamine, zinc and supportive treatment. Results of follow up: 89.1% patients improved liver function after treatment. Mortality rate during follow-up (12 months) is only 0.02%.
Conclusions: WD in children usually manifests as chronic liver injury. Do not overlook WD in a patient who has persistent transaminase elevations or hepatic failure unknown the origin. The follow up results showed 89.1% of WD’s patients responded to treatment with D-penicillamine and zinc.
