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塞巴斯蒂安血小板综合征。首例沙特阿拉伯本土患者报告。

The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient.

作者信息

Khalil S H, Qari M H

机构信息

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

出版信息

Pathology. 1995 Apr;27(2):197-8. doi: 10.1080/00313029500169872.

Abstract

Sebastian platelet syndrome is an hereditary thrombocytopenia with giant platelets and inclusion bodies in the granulocytes consisting of dispersed filaments, clusters of ribosomes and a few segments of rough and smooth endoplasmic reticulum at the ultrastructural level, similar to those observed in Fechtner syndrome (a variant of the Alport syndrome)--Sebastian platelet syndrome lacks the additional clinical features such as high frequency deafness, congenital cataract, and chronic interstitial nephritis. Here we report the fourth case worldwide and the first of an Arabian ancestry.

摘要

塞巴斯蒂安血小板综合征是一种遗传性血小板减少症,其特征为巨大血小板,在粒细胞中存在包涵体,在超微结构水平上,这些包涵体由分散的细丝、核糖体簇以及一些粗面和滑面内质网片段组成,类似于在费希特纳综合征(阿尔波特综合征的一种变体)中观察到的情况——塞巴斯蒂安血小板综合征缺乏诸如高频耳聋、先天性白内障和慢性间质性肾炎等其他临床特征。在此,我们报告全球第四例病例以及首例阿拉伯血统病例。

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