Department of Renal Medicine, Sydney Children's Hospital Network, Sydney, NSW, Australia.
Department of Renal Medicine, Townsville University Hospital, Douglas, QLD, Australia.
Pediatr Nephrol. 2023 Mar;38(3):651-662. doi: 10.1007/s00467-022-05606-1. Epub 2022 May 18.
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液体、电解质和酸碱平衡的维持。这些生理过程可能会被遗传或后天病因破坏。其结果是出现了肾小管病变。及时、准确地诊断儿童和青年期的肾小管病变非常重要。这可以实现及时、适当的管理，包括疾病特异性治疗，避免生长不良等并发症。肾小管病变可表现出多种非特异性临床特征，这在诊断上具有挑战性。在本综述中，我们基于这种常见的解剖和生理认识，对肾小管病变进行了阐述，以便于临床医生了解儿童和青年期肾小管病变的特征。
