A clinical approach to tubulopathies in children and young adults

Journal Publication ResearchOnline@JCU
Kermond, Rachael;Mallett, Andrew;McCarthy, Hugh
Abstract

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.

Journal

Pediatric Nephrology

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Volume

38

ISBN/ISSN

0931-041X

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Pages Count

12

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Publisher

Springer-Verlag New York

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EISSN

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DOI

10.1007/s00467-022-05606-1