Abstract：
The tubular system of the kidneys is a complex series of morphologic and functional units orchestrating the content of tubular fluid as it flows along the nephron and collecting ducts. Renal tubules maintain body water, regulate electrolytes and acid-base balance, reabsorb precious organic solutes, and eliminate specific metabolites, toxins, and drugs. In addition, decisive mechanisms to adjust blood pressure are governed by the renal tubules. Genetic as well as acquired disorders of these tubular functions may cause serious diseases that manifest both in childhood and adulthood. This article addresses a selection of tubulopathies and the underlying pathomechanisms, while highlighting the important differences in pediatric and adult nephrology care. These range from rare monogenic conditions such as nephrogenic diabetes insipidus, cystinosis, and Bartter syndrome that present in childhood, to the genetic and acquired tubular pathologies causing hypertension or nephrolithiasis that are more prevalent in adults. Both pediatric and adult nephrologists must be aware of these conditions and the age-dependent manifestations that warrant close interaction between the two subspecialties.
摘要：
肾脏的管状系统是一系列复杂的形态和功能单元，在沿肾单位和收集管流动时，对管状流体的内容进行协调。肾小管维持体内水分，调节电解质和酸碱平衡，重新吸收珍贵的有机溶质，并消除特定的代谢物，毒素,和毒品。此外,调节血压的决定性机制由肾小管控制。这些肾小管功能的遗传和获得性疾病可能会导致严重的疾病，这些疾病在儿童和成年期都表现出来。本文介绍了肾小管疾病的选择和潜在的病理机制，同时强调儿科和成人肾病护理的重要差异。这些包括罕见的单基因疾病，如肾源性尿崩症，胱氨酸病,和童年时出现的巴特综合征，导致成人高血压或肾结石的遗传性和获得性肾小管病理学。儿科和成人肾脏病学家都必须意识到这些情况以及年龄依赖性表现，这些表现需要两个亚专科之间的密切互动。
