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Bartter syndrome.

Steven C Hebert1

  • 1Department of Cellular and Molecular Physiology and Medicine, Yale University, School of Medicine, New Haeven, Connecticut 06520-8026, USA. steven.hebert@yale.edu

Current Opinion in Nephrology and Hypertension
|August 16, 2003
PubMed
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Recent advances reveal five genes causing Bartter syndrome, a kidney salt-wasting disorder. Pathophysiology involves impaired salt transport in the thick ascending limb, leading to varied clinical presentations.

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Bartter syndrome is a group of autosomal recessive kidney disorders.
  • It is characterized by impaired salt transport in the thick ascending limb of Henle.
  • This leads to renal salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria.

Purpose of the Study:

  • To review recent advances in understanding the genetic heterogeneity of Bartter syndrome.
  • To describe the pathophysiology and treatment of Bartter syndrome.
  • To highlight newly identified genes associated with the disorder.

Main Methods:

  • Review of recent scientific literature on Bartter syndrome.
  • Analysis of genetic and molecular mechanisms underlying the disease.

Related Experiment Videos

  • Correlation of genetic findings with clinical phenotypes.

    • Main Results:

    • Five genes (SLC12A2, KCNJ1, ClC-Kb, barttin, and the calcium-sensing receptor) are now identified as causing Bartter syndrome (Types I-V).
    • Barttin mutations cause Bartter syndrome with sensorineural deafness.
    • Gain-of-function mutations in the calcium-sensing receptor can also lead to a Bartter phenotype.

    Conclusions:

    • The unifying pathophysiology of Bartter syndrome (Types I-V) is the loss of salt transport in the thick ascending limb.
    • Phenotypic variations depend on the specific gene's role in the kidney and other organs.
    • Understanding genetic heterogeneity aids in diagnosis and potential therapeutic strategies.