Hemolytic anemia as the initial presentation of Wilson's disease. Regarding a rare disease with an infrequent presentation

Acta Médica Colombiana(2020)

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摘要
Wilson's disease is a rare genetic disorder that affects the excretion capacity of copper. Its distribution is worldwide, with an estimated prevalence in 30 cases per million habitants. Although the most frequent symptoms are those of hepatic and neuropsychiatric origin, hemolytic anemia with negative Coombs may be the only manifestation of the disease and its presentation usually precedes for months to clinically evident liver disease or neurological manifestations. The case of a young patient with negative Coombs hemolytic anemia and an alkaline phosphatase / total bilirubin ratio 2.2 is presented, establishing Wilson's disease as a diagnosis.
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关键词
anemia,la enfermedad de wilson
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