McNicol A, Israels S J, Robertson C, Gerrard J M
Manitoba Institute of Cell Biology, University of Manitoba, Winnipeg, Canada.
Br J Haematol. 1994 Mar;86(3):574-82. doi: 10.1111/j.1365-2141.1994.tb04789.x.
Two sisters with lifelong bleeding tendencies were examined to determine whether their condition was associated with a platelet defect. Their platelet aggregation in response to epinephrine and collagen was abnormal, and the secretion of serotonin and ATP was markedly reduced. The platelet contents of serotonin, ADP, and ATP were all diminished and the ATP:ADP ratio was increased. Direct enumeration by whole-mount and quinacrine-fluorescence techniques demonstrated that the platelets from both sisters had significantly fewer dense granules than controls. These characteristics are similar to an individual with Hermansky-Pudlak syndrome and are consistent with a platelet dense granule deficiency. In contrast, immunofluorescence studies using an antibody against the dense granule membrane protein granulophysin suggested that both sisters had numbers of granules within the normal range. Evaluation by immunoblotting and ELISA indicated the presence of normal levels of granulophysin in the platelets from both sisters; FACS analysis demonstrated the surface expression of granulophysin under conditions of selective dense granule release. These results are consistent with these sisters having a form of dense granule storage pool deficiency where the granular membranes are present but the granules have reduced contents. This observation represents a novel form of storage pool disease which we have termed the empty sack syndrome.
对两名有终生出血倾向的姐妹进行了检查，以确定她们的病情是否与血小板缺陷有关。她们的血小板对肾上腺素和胶原的聚集反应异常，血清素和三磷酸腺苷（ATP）的分泌明显减少。血清素、二磷酸腺苷（ADP）和ATP的血小板含量均降低，且ATP与ADP的比值升高。通过整装和喹吖因荧光技术进行的直接计数表明，两姐妹的血小板致密颗粒明显少于对照组。这些特征与患有赫尔曼斯基-普德拉克综合征的个体相似，与血小板致密颗粒缺乏一致。相比之下，使用针对致密颗粒膜蛋白颗粒素的抗体进行的免疫荧光研究表明，两姐妹的颗粒数量在正常范围内。免疫印迹和酶联免疫吸附测定（ELISA）评估表明，两姐妹血小板中颗粒素水平正常；荧光激活细胞分选（FACS）分析表明，在选择性致密颗粒释放的条件下，颗粒素在表面表达。这些结果与这两名姐妹患有某种形式的致密颗粒储存池缺乏症一致，即颗粒膜存在但颗粒内容物减少。这一观察结果代表了一种新型的储存池疾病，我们将其称为空袋综合征。
