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Bartter and Gitelman syndromes: Questions of class
Martine T P Besouw1, Robert Kleta2,3, Detlef Bockenhauer2,3
1Department of Pediatric Nephrology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. m.t.p.besouw@umcg.nl.
Pediatric Nephrology (Berlin, Germany)
|October 31, 2019
Summary
Bartter and Gitelman syndromes are rare inherited kidney tubulopathies. A gene-based classification is proposed due to clinical variability and uncertainties in transport protein function.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Bartter syndrome and Gitelman syndrome are rare inherited tubulopathies.
- Characterized by hypokalemic, hypochloremic metabolic alkalosis.
- Caused by mutations in genes regulating sodium reabsorption in the thick ascending limb (TAL) and distal convoluted tubule (DCT).
Purpose of the Study:
- To review the physiology of transport proteins involved in Bartter and Gitelman syndromes.
- To examine existing classifications of these tubulopathies.
- To propose a pragmatic, gene-based classification system.
Main Methods:
- Literature review of physiological studies on relevant transport proteins.
- Analysis of existing clinical and genetic classifications.
- Evaluation of the role of CLCNKB and CLCNKA in disease pathogenesis.
Main Results:
- Significant clinical phenotype variability exists despite genetic causes.
- Uncertainties remain regarding the compensatory role of CLCNKA for CLCNKB loss.
- Existing classifications show divergences due to clinical variability.
Conclusions:
- A gene-based classification offers a pragmatic solution for Bartter and Gitelman syndromes.
- Understanding transport protein physiology is crucial for accurate diagnosis and classification.
- Further research is needed to clarify the roles of CLCNKB and CLCNKA.
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