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沙特阿拉伯一个家庭中三兄弟姐妹患新生儿家族性伊文思综合征,伴有关节活动过度和二尖瓣反流。

Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family.

作者信息

Ahmed Fathelrahman E, Albakrah Mohameed S

机构信息

Department of Pediatrics, North West Armed Forces Hospital, Tabuk, Saudi Arabia.

出版信息

Ann Saudi Med. 2009 May-Jun;29(3):227-30. doi: 10.4103/0256-4947.51784.

Abstract

The occurrence of autoimmune hemolytic anemia and immune thrombocytopenia in the absence of a known underlying cause led to the diagnosis of Evans syndrome in a 9-month-old male. Subsequently, a similar diagnosis was made in two siblings (a 3-year-old boy and a 1-day-old girl). The 9-month-old had a chronic course with exacerbations. He was treated with steroids, intravenous immunoglobulin and colchicine with a variable response. He died of congestive heart failure at the age of 8 years. The brotherâs disease course was one of remission and exacerbation. With time, remissions were prolonged and paralleled an improvement in joint hypermobility. The sister died of sepsis after a chronic course with severe exacerbations. Only two families with Evans syndrome have been reported in the English medical literature. In one report (in a Saudi Arab family), the disease was associated with hereditary spastic paraplegia.

摘要

一名9个月大的男童在无已知潜在病因的情况下出现自身免疫性溶血性贫血和免疫性血小板减少症,从而被诊断为伊文斯综合征。随后,两名兄弟姐妹(一名3岁男孩和一名1日龄女孩)也被做出了类似诊断。这名9个月大的男童病程呈慢性且有病情加重情况。他接受了类固醇、静脉注射免疫球蛋白和秋水仙碱治疗,但反应不一。他在8岁时死于充血性心力衰竭。哥哥的病程呈缓解与加重交替。随着时间推移,缓解期延长,同时关节过度活动情况有所改善。妹妹在经历慢性病程且病情严重加重后死于败血症。英文医学文献中仅报道过两个患有伊文斯综合征的家庭。在一份报告中(一个沙特阿拉伯家庭),该疾病与遗传性痉挛性截瘫有关。

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本文引用的文献

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The genetics of mitral valve prolapse.二尖瓣脱垂的遗传学
Clin Genet. 2007 Oct;72(4):288-95. doi: 10.1111/j.1399-0004.2007.00865.x.
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