Objective:To study the ultrastructure and pathologic features of platelet and neutrophil in patients from a family (GXMS family) with non-muscle myosin heavy chain 9 related disease (MYH9-RD).Methods:Morphological characteristics of neutrophils,platelets and their organelles in peripheral blood of patients were observed by optical microscope and transmission electron microscope.Results:The proband in the GXMS family presented with giant platelet,thrombocytopenias and neutrophil inclusions.The platelets of all patients were heterogeneous in organelles content,and had increasing number of dense and α-granules,as well as open-canalicular systems,which were proportional to the increased platelet volume.The mitochondrial swelled significantly in 85% of the platelets,the open-tubular increased obviously in 62% of the platelets,and the pseudopodia were observed in 90% of the platelets.Some regions in giant platelets were surrounded by microtubules and endoplasmic reticulum,which were similar to the neutrophil inclusions in shape.Conclusion:Abnormal NMMHC-ⅡA resulted in a inhomogeneous organelle distribution within platelets,and it is likely to be an essential factor for maintaining the activation state of the platelets in patients with MYH9-RD.%目的:研究MYH9相关综合征(MYH9-RD)患者血小板、中性粒细胞的超微结构及其病理特点.方法:采用光学显微镜和透射电镜观察患者外周血的中性粒细胞、血小板及其细胞器形态结构特点.结果:患者具有“巨大血小板、血小板数量减少和中性粒细胞包涵体”三联征;各血小板所含的细胞器数量差异明显,多数血小板的微管系统、α颗粒和致密颗粒数量与血小板体积成比例增加.在所统计的血小板中,有约85%的线粒体肿胀明显,62%的开放管道数量增多,90%血小板有伪足伸出.巨大血小板中有被微管和内质网包围的特殊区域,形态与中性粒细胞包涵体类似.结论:非肌肉肌球蛋白重链ⅡA(NMMHC-ⅡA)异常导致血小板细胞器分布不均、开放管道数量增加,可能是MYH9-RD患者血小板一直处于被激活状态的重要因素.
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