A variant of hereditary stomatocytosis with marked pseudohyperkalaemia
A variant of hereditary stomatocytosis with marked pseudohyperkalaemia
复制标题
DOI：
10.1046/j.1365-2141.1999.01191.x
复制
发表时间：
1999-02-01
影响因子：
6.5
通讯作者：
Stewart, GW
中科院分区：
文献类型：
--
作者：
Coles, SE;Ho, MM;Stewart, GW
描述了一个患有不寻常形式的遗传性口细胞增多症的家庭。受影响的成员表现出轻微的显性遗传性溶血性贫血，细胞内 Na 和 It 水平分别为 41-48 和 44-53 mmol/（I 细胞）。这种贫血与明显的“假性高钾血症”有关：即在室温下储存的红细胞中失去了它。在 37°C 时，“泄漏”示踪剂通量速率（评估为哇巴因 + 布美他尼抗性 K 通量）与正常情况相比显示出大约 5 倍的加速，并且在 37°C 和 20°C 之间具有浅斜率的异常温度依赖性（在此区间内的平均 Q(10)（温度 T 和 T - 10 下的反应速率之比）为 1.6；正常为 2.2）。假性高钾血症可能是由于 20 摄氏度时泵血和漏出之间的差异造成的。这与之前针对血液学上的微不足道的病症“家族性假性高钾血症”所显示的机制相同。在这些细胞膜中没有发现蛋白质或脂质异常。
A family with an unusual form of hereditary stomatocytosis is described. The affected members showed a mild, dominantly-inherited, haemolytic anaemia with intracellular Na and It levels of 41-48 and 44-53 mmol/(I cells) respectively. This anaemia was associated with marked 'pseudohyperkalaemia': that is, loss of It from red cells on storage at room temperature. At 37 degrees C, 'leak' tracer flux rates (assessed as the ouabain + bumetanide-resistant K fluxes) showed a roughly 5-fold acceleration compared to normal, and an abnormal temperature dependence with a shallow slope between 37 and 20 degrees C (mean Q(10) (ratio of reaction rates at temperature T and T - 10) over this interval, 1.6; normal 2.2). The pseudohyperkalaemia could be attributed to the disparity between pump and leak at 20 degrees C. This is an identical mechanism to that previously shown for the haematologically trivial condition, 'familial pseudohyperkalaemia'. No protein or lipid abnormality was found in the membrane of these cells.