肾小管上皮细胞具有一系列离子通道和转运体,对于选择性重吸收或排泌各种离子、调节水电解质和酸碱平衡、维持人体内环境的稳定具有重要作用,其功能的重要性并不亚于肾小球。引起肾小管疾病的原因很多,包括获得性和先天性两大因素。分子遗传学的进展以及其在肾脏疾病的应用,已经确定了一系列遗传性肾小管疾病的分子缺陷,这些遗传性肾小管疾病尽管属于少见病,却为研究肾小管功能以及高血压发病机制提供了天然模型,并且部分患者如果早期诊断经过合理治疗能获得明显改善。 Renal tubular epithelial cells have a series of ion channels and transporters that play an important role in the selective reabsorption or excretion of various ions, in the regulation of water and electrolyte and acid-base balance, and in the maintenance of environmental stability in the human body, and their function is not of importance Sub-glomerular. Tubular disease caused by many reasons, including acquired and congenital two major factors. The advances in molecular genetics and their use in kidney disease have identified molecular defects in a series of hereditary tubular diseases that, despite their infrequent nature, provide the basis for studying renal tubular function and the pathogenesis of hypertension The natural model, and some patients if the early diagnosis after reasonable treatment can be significantly improved.