非肌球蛋白重链9相关疾病大家系患者中性粒细胞包含体特点分析

目的分析一非肌球蛋白重链9相关疾病（MYH9-RD）大家系患者中性粒细胞包涵体的形态和结构特点，阐明MYH9-RD中性粒细胞包涵体形成的特点，以探讨MYH9-RD中性粒细胞包涵体的致病机制。方法应用光学显微镜（瑞姬染色）和电子显微镜观察中性粒细胞包涵体形态和超微结构特点；应用间接免疫荧光复染技术观察MYH9-RD患者与正常对照者之间非肌性肌球蛋白IIA（NMMHC—IIA）在胞浆中的分布情况。结果光学显微镜和电子显微镜下可见中性粒细胞中明显的包涵体，形态多样，大多位于细胞边缘；间接免疫荧光复染技术显示患者和正常人之间NMMHC—IIA在中性粒细胞中的分布有差异，中性粒细胞胞浆中存在明显绿色荧光的包涵体，其形态和轮廓与瑞一姬氏染色显示的包涵体形状、大小基本一致，但更为清晰；正常对照的粒细胞胞浆中未见包涵体。结论光学显微镜和电子显微镜进一步确认了家系患者包涵体的存在。免疫荧光技术显示患者和正常人之间NMMHC—IIA在中性粒细胞中的分布有差异；MYH9-RD患者中性粒细胞包涵体的主要构成成份是NMMHC—IIA；包涵体的形态结构复杂多样可能与本家系临床表型复杂多样有关，该家系对进一步揭示MYH9-RD的致病机制具有重要的意义。

Analysis of neutrophils inclusions for the patients from a nonmuscle myosin heavy chain 9 related disease family

Objective To explore the pathologic mechanism of neutrophils inclusions with nonmuscle myosin heavy chain 9 related disease （MYH9-RD） by observing and analyzing the characteries of strcture and formation of neutro- phils inclusions with MYH9-RD patients. Methods Technique of light microscope（Wright-Giemsa staining） and elec- tron microscope was applied to analyze the cell morphology and ultrastructure of neutrophils inclusions of peripheral blood;Using indirect immunofluorescence technique to observe and analyze the localization and formation of non muscle myosin heavy chain IIA（NMMHC-IIA）. Results The neutrophils inclusion bodies with morphous multiplicity which localized in the periphery of the neutrophils were clearly seen under light microscope and eletron microscope. Mean- while,by immunofluorescence technique, neutrophils inclusions with green fluorescence were markly showed, which matched very well in localization, size and shape, compared with the inclusions ,displayed by light microscope （Wright- Giemsa＇s stain）. However,in normal control, no inclusions were observed except a diffusive distribution of fluorescent spot in neutrophils cytoplasm. Conclusion The neutrophils inclusions were confirmed furtherly by light microscope and eletron microscope. The distribution of NMMHC-IIA in cytoplasm of neutrophils between patients and normal control is different revealed by immunofluorescence technology. The major Component of neutrophils inclusions from MYH9- RD patients are NMMHC-IIA. The diversity of inclusions from the family patients may be related to its complicated clinical manifestations. It is of significance to reveal the molecular pathogenesis mechanism of MYH9-RD by further study this family.