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Understanding Bartter syndrome and Gitelman syndrome

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Abstract

Background

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome.

Data sources

Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011.

Results

The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition.

Conclusions

Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become lifethreatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

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Authors and Affiliations

  1. The Barbara Bush Children’s Hospital, Maine Medical Center, Tufts University School of Medicine, Portland, Maine, USA

    Oliver T. Fremont & James C. M. Chan

  2. Tufts University School of Medicine, Portland, USA

    James C. M. Chan

  3. The Barbara Bush Children’s Hospital, Maine Medical Center, 22 Bramhall Street, Portland, Maine, 04102-3175, USA

    James C. M. Chan

Authors
  1. Oliver T. Fremont
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  2. James C. M. Chan
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Correspondence to James C. M. Chan.

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Fremont, O.T., Chan, J.C.M. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr 8, 25–30 (2012). https://doi.org/10.1007/s12519-012-0333-9

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  • DOI: https://doi.org/10.1007/s12519-012-0333-9

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