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标题：Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease
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作者：M.G. Marazzi ; S. Giardino ; C. Dufour 等
期刊名称：La Pediatria Medica e Chirurgica
印刷版ISSN：0391-5387
出版年度：2012
卷号：34
期号：2
DOI：10.4081/pmc.2012.67
出版社：PAGEPress Publications
摘要：We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened after 22 months. This case emphasizes the importance of recognizing atypical clinical presentation of Wilson disease, which must always be considered in patients with Coombs-negative haemolytic anaemia. The good clinical response to treatment with zinc acetate monotherapy in our case might lend to consider the use of zinc monotherapy as initial therapy also in symptomatic patients with Wilson disease under close clinical observation. Clinical trials are needed to provide evidence for use of zinc monotherapy as first-line therapy in symptomatic patients with Wilson disease.
关键词：Haemolytic anaemia; Wilson disease; zinc acetate