Tsuda H, Yamasaki H, Miyayama H
Division of Clinical Hematology and Immunology, Kumamoto City Hospital, Japan.
Int J Hematol. 1999 Dec;70(4):290-3.
Ultrastructural studies of granulocytes were performed on two unrelated patients with hereditary thrombocytopenia, giant platelets, and inclusion bodies in granulocytes. Each patient had been diagnosed with May-Hegglin anomaly. In both cases, inclusion bodies in granulocytes consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum. Additional clinical features suggesting Alport syndrome were lacking in these propositi and their family members. These observations imply that the patients were affected not with May-Hegglin anomaly but with Sebastian platelet syndrome. They would thus represent the seventh and eighth families known to carry this hereditary disease.
对两名患有遗传性血小板减少症、巨大血小板以及粒细胞包涵体的无血缘关系患者进行了粒细胞超微结构研究。每位患者均被诊断为May-Hegglin异常。在这两个病例中，粒细胞中的包涵体由核糖体簇和粗面内质网的小片段组成。这些患者及其家庭成员缺乏提示阿尔波特综合征的其他临床特征。这些观察结果表明，这些患者患的不是May-Hegglin异常，而是塞巴斯蒂安血小板综合征。因此，他们将代表已知携带这种遗传病的第七和第八个家族。
