Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base homeostasis via passive and active mechanisms. These physiological processes can be disrupted by inherited or acquired aetiologies. The net result is a tubulopathy. It is important to make a prompt and accurate diagnosis of tubulopathies in children and young adults. This allows timely and appropriate management, including disease-specific therapies, and avoids complications such as growth failure. Tubulopathies can present with a variety of non-specific clinical features which can be diagnostically challenging. In this review, we build from this common anatomical and physiological understanding to present a tangible appreciation of tubulopathies as they are likely to be clinically encountered among affected children and young adults.

肾小管通过被动和主动机制负责维持液体、电解质和酸碱稳态。这些生理过程可能会被遗传或后天病因所破坏。最终结果是肾小管病。对儿童和年轻人的肾小管疾病进行及时、准确的诊断非常重要。这可以实现及时、适当的管理，包括针对特定疾病的治疗，并避免生长障碍等并发症。肾小管病可呈现多种非特异性临床特征，这在诊断上具有挑战性。在这篇综述中，我们从这种常见的解剖学和生理学理解出发，对肾小管病有一个切实的认识，因为它们很可能在临床上出现在受影响的儿童和年轻人中。