| A Case of Wilson's Disease. |
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Hee Joo Jeon, Yong Joon Kim, Hi Joo Park, Chan Yung Kim, Jong Woo Shin |
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Department of Pediatrics, College of Medicine, Pusan National University |
| Wilson 병 1례 |
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전희주, 김용준, 박회주, 김찬영, 신종우 |
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부산대학교 의과대학 소아과학교실 |
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| Abstract |
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Department of Pediatrics, College of Medicine, Pusan National University
Wilson’s disease is due to excessive accumulation of copper in the liver, brain, kidneys and cornea
caused by a defect in biliary excretion.
The classic presentation of Wilson’s disease is the triad of neurologic abnormalities, Kayser-
Fleischer ring and cirrhosis associated with low serum copper and ceruloplasmin levels.
The case, 12-year-old boy, suffered from jaundice, abdominal distension and gait disturbance. His
elder brother died from neurologic disease at 14 years old age and elder sister died from liver cirrhosis
at 9 years old age. Laboratory findings revealed low serum copper and ceruloplasmin levels and
increased urinary copper excretion.
We reviewed literatures briefly and presented this case.
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| Key Words:
Wilson’s disease, Kayser-Fleischer ring, Copper, D-penicillamine.
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