Clark M R, Aminoff M J, Chiu D T, Kuypers F A, Friend D S
Department of Laboratory Medicine, University of California, San Francisco 94143.
J Lab Clin Med. 1989 Apr;113(4):469-81.
Whole cell deformability and lipid determinations were performed on red cells from two patients who had acanthocytes in the peripheral blood (10% and 20% to 30%) and normal serum lipoprotein levels. One patient had typical chorea-acanthocytosis and the other had no clinical abnormalities associated with acanthocytosis. Red cells from the patient with chorea-acanthocytosis showed reduced deformability, as measured by a visco-diffractometric method (ektacytometry), which could be explained by the presence of increased numbers of dehydrated cells containing high concentrations of hemoglobin. The total cell population showed a modest increase in potassium efflux, which may be responsible for reduced cation content and dehydration in a subpopulation of cells. When the patients' red cells were separated into different density populations by centrifugation on density gradients, the cells of classic acanthocyte morphology were concentrated in the high-density layers. This was true for both patients, although the subject with acanthocytes and no clinical disorder had a normal red cell density distribution. Lipid analysis of both types of acanthocytes showed an increase in the relative proportion of sphingomyelin with respect to the glycerophospholipids. Total cholesterol and phospholipid levels were reduced in the chorea-acanthocytosis red cells, but the other acanthocytes did not differ significantly in total lipid content from normal control samples. Thus, the one common abnormal feature in these two forms of acanthocytosis is the increase in the proportion of red cell sphingomyelin. Because this is a very stable, immobile component of the membrane, we suggest that its relative enrichment could result from a defect in the transport and maintenance of glycerophospholipids. Further study of the dynamics of glycerophospholipid organization in acanthocytes may be useful in increasing our understanding of the genesis of abnormal, acanthocytic morphology.
对两名外周血中有棘形红细胞（分别为10%以及20%至30%）且血清脂蛋白水平正常的患者的红细胞进行了全细胞变形性和脂质测定。一名患者患有典型的舞蹈病-棘形红细胞增多症，另一名患者没有与棘形红细胞增多症相关的临床异常。通过粘度衍射法（红细胞变形性测定仪）测量，舞蹈病-棘形红细胞增多症患者的红细胞变形性降低，这可以用含有高浓度血红蛋白的脱水细胞数量增加来解释。总的细胞群体显示钾外流有适度增加，这可能是导致一部分细胞阳离子含量降低和脱水的原因。当通过密度梯度离心将患者的红细胞分离成不同密度群体时，典型棘形红细胞形态的细胞集中在高密度层。两名患者都是如此，尽管有棘形红细胞但无临床疾病的患者红细胞密度分布正常。对两种类型的棘形红细胞进行脂质分析显示，鞘磷脂相对于甘油磷脂的相对比例增加。舞蹈病-棘形红细胞增多症患者的红细胞中总胆固醇和磷脂水平降低，但其他棘形红细胞的总脂质含量与正常对照样本相比无显著差异。因此，这两种形式的棘形红细胞增多症的一个共同异常特征是红细胞鞘磷脂比例增加。由于这是膜中一种非常稳定、不可移动的成分，我们认为其相对富集可能是由于甘油磷脂转运和维持缺陷所致。进一步研究棘形红细胞中甘油磷脂组织的动态变化可能有助于加深我们对异常棘形红细胞形态发生的理解。
