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Bartter syndrome: causes, diagnosis, and treatment

Authors Cunha TDS, Heilberg IP

Received 20 June 2018

Accepted for publication 5 September 2018

Published 9 November 2018 Volume 2018:11 Pages 291—301

DOI https://doi.org/10.2147/IJNRD.S155397

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Justinn Cochran

Peer reviewer comments 7

Editor who approved publication: Professor Pravin Singhal


Tamara da Silva Cunha, Ita Pfeferman Heilberg

Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil

Abstract: Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype–genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. However, phenotypic identification still remains the first step to guide the suspicion of Bartter syndrome. Given the rarity of the syndrome, and the lack of genetic characterization in most cases, limited clinical evidence for treatment is available and the therapy is based mainly on the comprehension of renal physiology and relies on the physician’s personal experiences. A better understanding of the mutated channels and transporters could possibly generate targets for specific treatment in the future, also encompassing drugs aiming to correct deficiencies in folding or plasma membrane expression of the mutated proteins.

Keywords: Bartter syndrome, metabolic alkalosis, hypokalemia, Gitelman syndrome, tubulopathy

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