1. Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling
- Author
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Bockenhauer, Detlef and Kleta, Robert
- Subjects
Sodium in the body -- Health aspects -- Physiological aspects -- Chemical properties ,Biological transport -- Health aspects ,Kidney tubules -- Health aspects ,Kidney diseases -- Development and progression -- Causes of ,Pediatric research ,Health - Abstract
Evolution moves in mysterious ways. Excretion of waste products by glomerular filtration made perfect sense when life evolved in the ocean. Yet, the associated loss of water and solutes became a problem when life moved onto land: a serious design change was needed and this occurred in the form of ever more powerful tubules that attached to the glomerulus. By reabsorbing typically more than 99% of the glomerular filtrate, the tubules not only minimise urinary losses, but, crucially, also maintain homeostasis: tubular reabsorption and secretion are adjusted so as to maintain an overall balance, in which urine volume and composition matches intake and environmental stressors. A whole orchestra of highly specialised tubular transport proteins is involved in this process and dysfunction of one or more of these results in the so-called kidney tubulopathies, characterised by specific patterns of clinical and biochemical abnormalities. In turn, recognition of these patterns helps establish a specific diagnosis and pinpoints the defective transport pathway. In this review, we will discuss these clinical and biochemical 'fingerprints' of tubular disorders of salt-handling and how sodium handling affects volume homeostasis but also handling of other solutes., Author(s): Detlef Bockenhauer [sup.1] [sup.2] , Robert Kleta [sup.1] [sup.2] Author Affiliations: (1) grid.83440.3b, 0000000121901201, Department of Renal Medicine, University College London, , NW3 2PF, London, UK (2) grid.424537.3, 0000 [...] more...
- Published
- 2021
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