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• W1433143775 abstract "This chapter sheds light on the genetic, physiological, and biochemical studies of Liddle’s syndrome (pseudoaldosteronism) providing a new understanding of the cellular and molecular basis of the regulation of blood pressure and volume by the kidney. Morphological and functional studies on rodent and human kidneys indicate that at least three successive portions of the distal nephron, i.e., the late portion of the distal convoluted tubule (DCT), the connecting tubule (CNT), and the collecting duct (CD), contribute to the ASDN. Although these segments have distinct structural and functional features, they have in common the expression of the epithelial sodium channel (ENaC), the mineralocorticoid receptor (MR), and the 11-βhydroxysteroid dehydrogenase type II (11-βHSD2) proteins. Analysis of the β ENaC gene of subject with Liddle’s syndrome showed different types of mutations, all located in the cytosolic C-terminus end of the β or γ ENaC subunit (exon XIII of SCNN1B and SCNN1G). These mutations include premature stop codons, frameshift or missense mutations that delete or change a conserved proline-rich sequence. Liddle’s syndrome also arises from mutations in the γ ENaC subunit at corresponding positions in the cytosolic C-terminus of the subunit (exon XIII). All the mutations associated with Liddle syndrome delete or modify the sequence of a conserved proline-rich motif xPPxY (x being any amino acid, P proline, and Y tyrosine) in the C-terminus of the β and γ ENaC subunits. In addition to Liddle’s syndrome, hereditary renal disorders associated with elevated blood pressure, expansion of the extracellular fluid volume due to excessive distal Na+ absorption include the apparent mineralocorticoid excess (AME), the hypertension exacerbated in pregnancy, or the pseudohypoaldosteronism type II." @default.
• W1433143775 created "2016-06-24" @default.
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• W1433143775 date "2009-01-01" @default.
• W1433143775 modified "2023-09-23" @default.
• W1433143775 title "Liddle's Syndrome (Pseudoaldosteronism)" @default.
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• W1433143775 doi "https://doi.org/10.1016/b978-0-12-449851-8.00016-4" @default.
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