Department of Medical Genetics and Division of Renal Medicine, University of Cambridge, Cambridge, UK.
Nephron Physiol. 2011;118(1):p28-34. doi: 10.1159/000320885. Epub 2010 Nov 11.
Disorders of water balance lead either to dehydration or overhydration. Because there is an intimate relationship between water and sodium concentration (water generally following salt), one can distinguish hypotonic, isotonic and hypertonic dehydration and the same for overhydration. The vast majority of water balance disorders are acquired. In this article, the focus is on the inherited disorders both of water (nephrogenic diabetes insipidus) and acid-base balance. Both acidosis and alkalosis can arise from primary tubular ion transport abnormalities. The alkaloses are usually secondary to salt handling problems, whereas the renal tubular acidoses are often a consequence of primary abnormalities of acid-base transporters.
水平衡紊乱可导致脱水或水过多。由于水和钠浓度(水通常随盐)之间存在密切关系,因此可以区分低渗性、等渗性和高渗性脱水,同样也可以区分水过多。绝大多数水平衡紊乱是后天获得的。本文重点介绍水(肾性尿崩症)和酸碱平衡的遗传性紊乱。酸中毒和碱中毒均可因原发性管状离子转运异常而发生。碱中毒通常继发于盐处理问题,而肾小管性酸中毒通常是酸碱转运蛋白原发性异常的结果。