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Review
. 2018 Nov 9:11:291-301.
doi: 10.2147/IJNRD.S155397. eCollection 2018.

Bartter syndrome: causes, diagnosis, and treatment

Tamara da Silva Cunha  1 , Ita Pfeferman Heilberg  1
Affiliations
Review

Bartter syndrome: causes, diagnosis, and treatment

Tamara da Silva Cunha et al. Int J Nephrol Renovasc Dis. .

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; Gitelman syndrome; hypokalemia; metabolic alkalosis; tubulopathy.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Sodium reabsorption in the thick ascending limb. Abbreviations: CaSR, calcium-sensing receptor; CLC-Kb, chloride channel; NKCC2, furosemide-sensitive sodium–potassium–chloride cotransporter; OSR1, oxidative stress-responsive kinase 1; ROMK, renal outer medullary potassium channel; SPAK, sterile 20/SPS-1-related proline alanine-rich kinase; WNK3, with-no-lysine [K] family of kinases.
Figure 2
Figure 2
Gene defects pathophysiology in Bartter syndrome. Abbreviations: COX2, cycloxygenase-2; NaCl, sodium chloride; PGE2, prostaglandin E2; TAL, thick ascending limb; TGF, tubuloglomerular feedback.
Figure 3
Figure 3
Flowchart for the diagnosis of Bartter syndrome in adult patients. Abbreviations: GI, gastrointestinal; RTA, renal tubular acidosis.
See this image and copyright information in PMC

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