Elghozi J L, Dagher G, Garay R P, Vasmant D, Girard F, Meyer P
Biomedicine. 1981 Mar;35(1):4-6.
In recent studies were reported an inherited membrane defect which is closely related to the development of essential hypertension. This abnormality consists of a functional deficiency in the Na+--K+ co-transport mechanism in erythrocytes of essential hypertensives and some normotensives born of hypertensive parents. Here we report a case of juvenile essential hypertension including familial erythrocyte Na+, K+ measurements. The 2-year-old boy had essential hypertension and bore the abnormality, with no compensatory activity of the Na+, K+ pump. The mother had developed hypertension during pregnancy. She also bore the erythrocyte abnormality as the net Na+/K+ flux ratio was reduced. One sister bore the same abnormality without hypertension but a complete analysis of Na+ extrusion mechanisms in this patient demonstrated a compensatory effect of the Na+, K+ pump activity. Other members of the family were normotensive without the flux abnormality. It appears therefore that erythrocyte flux measurements might be of diagnostic and genetic interest in juvenile hypertension.
最近的研究报道了一种与原发性高血压发展密切相关的遗传性膜缺陷。这种异常表现为原发性高血压患者以及一些父母患有高血压的血压正常者的红细胞中钠钾协同转运机制功能缺陷。在此,我们报告一例青少年原发性高血压病例,包括家族性红细胞钠、钾测量结果。这个两岁男孩患有原发性高血压且存在该异常,钠钾泵无代偿性活动。母亲在孕期患高血压,她也存在红细胞异常,因为钠/钾净通量比降低。一个姐姐有同样的异常但无高血压,不过对该患者钠排出机制的全面分析显示钠钾泵活性有代偿作用。家族中的其他成员血压正常且无通量异常。因此,红细胞通量测量对于青少年高血压的诊断和遗传学研究可能具有重要意义。