[急性复发性溶血性贫血作为肝豆状核变性的首发表现：一例报告]
[Acute recurrent hemolytic anemia as the first manifestation of Wilson's disease: Report of a case].
作者信息
El Khattabi A, Seddik H, Fatihi J, Salaheddine H, Badaoui M, Amézyane T, Mahassine F, Ohayon V
机构信息
Service de médecine interne B, hôpital militaire d'instruction Mohammed-V, Madinat Al Irfane, Hay Riad, BP 6255, Rabat, Maroc.
出版信息
Transfus Clin Biol. 2009 Mar;16(1):39-42. doi: 10.1016/j.tracli.2009.01.005. Epub 2009 Mar 28.
INTRODUCTION
The liver and central nervous system are the usual targets of Wilson's disease, an inherited disorder of copper metabolism. Severe hemolytic anemia is an unusual complication of Wilson's disease.
EXEGESIS
We report a case of Wilson's disease revealed by acute intravascular repeating hemolytic anemia associated with liver failure. The initially negative etiologic investigation was directed by occurred of liver failure. The genetic study allowed to discover an other similar case. The evolution was favourable under treatment with zinc sulfate and penicillamine.
DISCUSSION
Diagnosis of Wilson's disease must be considered in case of acute hemolytic anemia associated with liver failure in young adults.
引言
肝脏和中枢神经系统是肝豆状核变性（一种遗传性铜代谢紊乱疾病）的常见受累部位。严重溶血性贫血是肝豆状核变性的一种罕见并发症。
病例分析
我们报告一例因急性血管内反复溶血性贫血伴肝功能衰竭而确诊的肝豆状核变性病例。最初病因检查呈阴性，但因肝功能衰竭的出现而进行了针对性检查。基因研究发现了另一例类似病例。经硫酸锌和青霉胺治疗后病情好转。
讨论
对于年轻成人出现急性溶血性贫血伴肝功能衰竭的情况，必须考虑肝豆状核变性的诊断。
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