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溶血性贫血与肝衰竭——威尔逊病的一种表现(作者译)

[Hemolytic anemia and liver failure -- a manifestation of Wilson's disease (author's transl)].

作者信息

Finkenstedt G, Braunsteiner H

出版信息

Acta Med Austriaca. 1981;8(4):124-7.

PMID:7315154
Abstract

Wilson's disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs. Effective therapy with partial or complete remissions is possible when diagnosis is established early. The first manifestation usually occurs in childhood or early adult life with signs of liver failure and/or hemolytic anemia (stage II), as in the presented case, or with symptoms of extrapyramidal cerebral disease (stage IV). Wilson's disease should be ruled out in all patients below the age of 30 years presenting with liver disease, Coombs-negative, non spherocytic hemolytic anemia or neuropsychiatric disorders of unknown etiology.

摘要

威尔逊氏病是一种罕见的遗传性铜代谢紊乱疾病,会对重要器官造成严重损害。如果能早期确诊,进行有效治疗后部分或完全缓解是有可能的。首发症状通常出现在儿童期或成年早期,表现为肝功能衰竭和/或溶血性贫血(II期)症状,如本病例所示,或锥体外系脑病症状(IV期)。所有30岁以下出现肝病、库姆斯试验阴性的非球形细胞溶血性贫血或病因不明的神经精神疾病的患者都应排除威尔逊氏病。

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