先天性红细胞生成障碍贫血I型超微结构特征.docVIP

先天性红细胞生成障碍贫血I型超微结构特征 　【摘要】 本研究探讨Ⅰ型先天性红细胞生成不良性贫血（CDAⅠ型）的超微病理特点和电镜诊断要点。用透射电子显微镜分析2例儿童患者骨髓有核红细胞的超微结构。结果表明：2例CDAⅠ型患者骨髓幼红细胞比例增加，各阶段细胞存在不同程度巨幼样变；原红细胞核不规则，早幼或中幼红细胞可见奶酪核，约半数晚幼红细胞有核溶解和破碎现象，晚幼红细胞核损伤有时伴胞质溶解，细胞间染色质桥少见；各阶段红细胞核膜和内质网同时出现不同程度溶解。结论：CDAⅠ型的主要超微结构特点为幼红细胞巨幼样增生,其次是中幼阶段核膜损伤和晚幼阶段的核溶解和核碎裂，生物膜系统广泛破坏是CDAⅠ型主病理机制。 【关键词】 贫血 先天性红细胞生成障碍性贫血Ⅰ型 成红细胞 超微结构 Ultrastructural Characteristics of Congenital Dyserythropoietic Anemia type I Abstract The study was aimed to investigate the ultranstructural feature and diagnostic criteria of congenital dyserythropoietic anemia type I (CDA type Ⅰ) . Nucleated red cells in bone marrow from two patients with CDAtype Ⅰ were analyzed by transmission electron microscopy (TEM). The results indicated that the erythropoietic/granulopoietic ratio was markedly increased with megaloblastic morphology in all stage of erythrocyte. Most proerythroblast showed of irregular nuclei, while the Swisscheeseappearance of the heterochromatin was usually found in basophilic and polychromatic erythroblast. About half of orthochromatic erythroblast illustrated karyolysis and karyorrhexis. Some orthochromatic erythroblast exhibited karyolysis and plasmolysis simultaneously. The internuclear chromatin bridge between separated erythroblasts was seldom found by TEM. The nuclear membrane and rough endoplasmic reticulum were destructed at all stage of erythrocytes in different degree. In conclusion, the megaloblastic erythrosis was the main characteristic of CDA type Ⅰ, and then nuclear membrane disruption in polychromatic erythroblast and karyolysis or karyorrhexis in orthochromatic erythroblast. The universal breakdown of cytoplasm membranous system was fundamental pathogenesis of CDAtype Ⅰ. Key words anemia; congenital dyserythropoietic anemiatype Ⅰ； erythroblast; ultrastructure 先天性红细胞生成障碍性贫血(congenital dys erythropoietic anemias， CDA)是一组以红系无效造血和生成异常为特征的遗传性疾病。无效造血表现为骨髓内有核红细胞增生活跃、 幼红细胞溶解、 破裂， 向外周围血循环释放减少； 生成异常主要指有核红细胞出现多核、 核轮廓不规则及幼红细胞巨幼变等异常形态，粒系细胞和巨核细胞很少出现