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Bartter-, Gitelman-, and Related Syndromes

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Pediatric Kidney Disease

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Abstract

The focus of this chapter are different disorders of primary renal salt-wasting caused by inherited dysfunction of ion-transporting proteins expressed along the thick ascending limb (TAL) of Henle’s loop and along the early distal convoluted tubule (DCT). The clinical presentation, the underlying pathophysiology resulting from the different gene defects and the therapeutic approaches for the different subtypes of Bartter syndrome, Gitelman syndrome and EAST syndrome will be discussed in detail. Renal salt-wasting due to impaired sodium reabsorption along the aldosterone-sensitive distal nephron (ASDN) composed of the late DCT, the connecting tubule (CNT), and the collecting duct (CD) is accompanied by hyperkalemia and is discussed elsewhere.

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Authors and Affiliations

  1. Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria

    Siegfried Waldegger

  2. Department of General Pediatrics, University Hospital Münster, Münster, Germany

    Karl Peter Schlingmann & Martin Konrad

Authors
  1. Siegfried Waldegger
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  2. Karl Peter Schlingmann
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  3. Martin Konrad
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Correspondence to Martin Konrad .

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Editors and Affiliations

  1. Division of Pediatric Nephrology, Heidelberg University, Heidelberg, Germany

    Franz Schaefer

  2. Emory School of Medicine, Emory University, Atlanta, GA, USA

    Larry A. Greenbaum

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Waldegger, S., Schlingmann, K.P., Konrad, M. (2023). Bartter-, Gitelman-, and Related Syndromes. In: Schaefer, F., Greenbaum, L.A. (eds) Pediatric Kidney Disease. Springer, Cham. https://doi.org/10.1007/978-3-031-11665-0_36

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  • DOI: https://doi.org/10.1007/978-3-031-11665-0_36

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