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[Bartter's syndromes].

M C Vantyghem1, C Douillard, R Binaut

  • 1Clinique Marc Linquette (USNA), 6, rue du Professeur Laguesse, 59037 Lille Cedex.

Annales D'Endocrinologie
|January 5, 2000
PubMed
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Bartter syndromes are inherited kidney disorders causing electrolyte imbalances and increased renin. Diagnosis involves genetic and phenotypic analysis of these rare tubulopathies.

Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Context:

  • Bartter syndromes encompass inherited autosomal recessive tubulopathies.
  • Characterized by hypochloremia, hypokalemia, metabolic alkalosis, and renal potassium wasting with normal blood pressure.
  • Associated with increased plasma renin activity.

Purpose:

  • To outline the classification and genetic basis of Bartter syndromes.
  • To describe the clinical manifestations and diagnostic approaches for different forms.
  • To highlight associated endocrinological and neurological abnormalities.

Summary:

  • Three main forms are identified: Gitelman syndrome (mild, distal tubule Na-Cl cotransporter mutations), Antenatal Bartter syndrome (severe, Henle's loop NKCC2 or ROMK mutations), and classical Bartter syndrome (Type III, Henle's loop chloride channel CLCNKB mutations).

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  • Overlapping syndromes and associated conditions like diabetes and deafness can occur.
  • Diagnosis requires both phenotypic assessment and genetic analysis.

    • Impact:

    • Provides a structured overview of Bartter syndromes for clinicians and researchers.
    • Emphasizes the importance of genetic mutations in understanding disease mechanisms.
    • Facilitates accurate diagnosis and management of these rare kidney disorders.