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Pediatric Nephrology
Published in: Pediatric Nephrology 2/2022

01-02-2022 | Review

Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome

Author: Rosa Vargas-Poussou

Published in: Pediatric Nephrology | Issue 2/2022

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Abstract

The thick ascending limb plays a central role in human kidney physiology, participating in sodium reabsorption, urine concentrating mechanisms, calcium and magnesium homeostasis, bicarbonate and ammonium homeostasis, and uromodulin synthesis. This review aims to illustrate the importance of these roles from a pathophysiological point of view by describing the interactions of the key proteins of this segment and by discussing how recently identified and long-known hereditary diseases affect this segment. The descriptions of two recently described salt-losing tubulopathies, transient antenatal Bartter syndrome and HELIX syndrome, which are caused by mutations in MAGED2 and CLDN10 genes, respectively, highlight the role of new players in the modulation of sodium reabsorption the thick ascending limb.
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Metadata
Title
Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome
Author
Rosa Vargas-Poussou
Publication date
01-02-2022
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 2/2022
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-021-05019-6

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