[Liddle syndrome].

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  • Author(s): Tamura H;Tamura H; Sasaki S
  • Source:
    Nihon rinsho. Japanese journal of clinical medicine [Nihon Rinsho] 1996 Mar; Vol. 54 (3), pp. 807-11.
  • Publication Type:
    English Abstract; Journal Article; Review
  • Language:
    Japanese
  • Additional Information
    • Source:
      Publisher: Nippon Rinsho Co Country of Publication: Japan NLM ID: 0420546 Publication Model: Print Cited Medium: Print ISSN: 0047-1852 (Print) Linking ISSN: 00471852 NLM ISO Abbreviation: Nihon Rinsho Subsets: MEDLINE
    • Publication Information:
      Original Publication: Osaka : Nippon Rinsho Co
    • Subject Terms:
      Alkalosis*/etiology ; Hyperaldosteronism*/etiology ; Hypertension*/etiology ; Hypokalemia*/etiology; Animals ; Base Sequence ; Humans ; Molecular Sequence Data ; Mutation ; Sodium Channels/genetics ; Syndrome
    • Abstract:
      In 1963 Liddle et al. described a disorder that simulated primary aldosteronism, characterized by severe hypertension and hypokalemia but with negligible secretion of aldosterone. They theoried that this was a disorder in which the renal tubules transport ions with such abnormal facility that the end result simulates that of a mineralcorticoid excess. Later, it was postulated that this disorder could be related to the abnormality of amiloride sensitive Na channel. The activity of amiloride-sensitive Na channels constitutes the rate limiting step for Na reabsorption in Na transporting epithelia. Recently, the primary sequence of the rat amiloride-sensitive epithelial Na+ channel (rENaC) was determined by functional expression cloning and shown to be composed of three homologous subunits: alpha, beta, and gamma. Its expression of all three subunits in Xenopus oocytes markedly increased the magnitude of these currents. Analysis of subjects with Liddle's syndrome demonstrates the mutation of carboxy-terminal domain in alpha, beta, and gamma subunits. The mutations are either premature termination, frameshift mutation, or missense mutations.
    • Number of References:
      12
    • Accession Number:
      0 (Sodium Channels)
    • Publication Date:
      Date Created: 19960301 Date Completed: 19970228 Latest Revision: 20110727
    • Publication Date:
      20250114
    • Accession Number:
      8904241