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[Liddle syndrome]

H Tamura1, S Sasaki

  • 1The Second Department of Internal Medicine, Tokyo Medical and Dental University, Japan.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|March 1, 1996
PubMed
Summary
This summary is machine-generated.

Liddle's syndrome, a cause of severe hypertension, results from mutations in epithelial sodium channels (ENaC). These mutations lead to excessive sodium reabsorption, mimicking mineralocorticoid excess.

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Area of Science:

  • Nephrology
  • Molecular Biology
  • Genetics

Context:

  • Liddle's syndrome, described in 1963, mimics primary aldosteronism with severe hypertension and hypokalemia.
  • It is characterized by normal aldosterone secretion, suggesting a defect in renal tubular ion transport.
  • The amiloride-sensitive sodium channel (ENaC) was later implicated due to its role in sodium reabsorption.

Purpose:

  • To investigate the molecular basis of Liddle's syndrome.
  • To identify the specific genetic mutations responsible for the disorder.
  • To understand the role of the epithelial sodium channel (ENaC) in the pathogenesis of Liddle's syndrome.

Summary:

  • The rat epithelial sodium channel (rENaC) comprises alpha, beta, and gamma subunits.
  • Functional expression of all three subunits in Xenopus oocytes significantly increased sodium currents.

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  • Analysis revealed mutations in the carboxy-terminal domains of alpha, beta, and gamma subunits in Liddle's syndrome patients, including premature termination, frameshift, and missense mutations.

    • Impact:

    • Identifies specific mutations in ENaC subunits as the cause of Liddle's syndrome.
    • Provides a molecular explanation for the observed hypertension and hypokalemia.
    • Enhances understanding of renal sodium transport regulation and its disruption in genetic disorders.