遗传性球形红细胞增多症临床和实验研究  

CLINIAL AND EXPERIMENTAL STUDY OF HEREDITARY SPHEROCYTOSI

作　　者：赵新民[1] 潘华珍[1] 方芳[1] 胡亚美[1] 臧晏[1] 刘世颖[1] 李学勤 许彩民 武永吉 

机构地区：[1]首都医科大学附属北京儿童医院

出　　处：《中国小儿血液》1996年第4期186-188,F003,共4页China Child Blood

摘　　要：本文目的在于总结我院自１９６０～１９９０年收治的ＨＳ１７０例的临床特点和牌切除疗效；通过对红细胞膜蛋白定量和结构分析，探讨ＨＳ的发病机理。１７０例中，男９０例，女８０例。发病年龄＜１岁６７例，１～５岁７２例。家族史阳性占４１％。贫血、脾大、肝大、黄症为本症四大表现。外周血均见典型小球形红细胞，ＯＦ试验均增高。红细胞膜蛋白分析采用ＳＤＳ－聚丙烯酸胺凝胶电泳和透射电镜方法。结果１３４例行切脾手术，术后均见Ｈｂ著回升，网织红细胞恢复正常，无一例感染或死亡。９例膜蛋白分析，ＳＰα分别减少２９～６０％，７例ＳＰβ缺乏１８～２６％；超微结构发现患者ＳＰ缺乏，骨架松散，网格不匀，证实ＨＳ确有膜骨架蛋白先天性缺陷。Abstract:This study aimed at systemic summary on the clinical features of spherocytosis and therapeutic effects of splenectomy, probing in to its pathogenesis by sturctural and quantitativeanalysis of the red blood cell membrane. In 170 cases, 90 were male and 80 were female.The age of onset was under 1 year in 67 cases, 1-5 years in 72 cases. In 41% of the patientshad positive family history. Anemia, splenomegaly, hepatomegaly and jaundice were principle manifestations of the disease. Typical microspherocytes were discovered in all cases. Osmotic fragility was elevated. The red blood membrane was analysed by SDS-PAGE andtransmission electronmicroscopy. Splenectomy was performed in 134 cases. Hemoglobin elevated and reticulocytes retuned to normal in all cases, none had infections and no death occurred. Analysis of membrane proteins was performed in 9 cases. Spectrin α was decreasedby 29-60% in 9 cases and spectrin β decreased by 18-26% in 7. Transmission electronmicroscopy showed that there was a spectrin dificiency, membrane-skeletons were loose, thenetwork did not distribute evenly. The result of the study suggest that congenital defects ofmembrane-skeletons in HS were confirmed.

关 键 词：球形红细胞增多 红细胞膜蛋白 遗传性 儿童 

分 类 号：R725.551[医药卫生—儿科]