Key result
Beta subunit R564X mutation underlies Liddle syndrome in a Japanese family.
Case Report
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Liddle's syndrome is a rare form of autosomal-dominant salt-sensitive hypertension. Constitutive activation of the amiloride-sensitive distal renal epithelial sodium channel (ENaC) is essential for salt-sensitive hypertension. Recently, several DNA analysis studies have indicated that there is a mutation of C-terminus of either the beta or y subunit. We sequenced the C-termini of the beta and -gamma subunits of the ENaC in a Japanese family with hypertension and hypopotassemia without excess minerarocorticoids, clinically diagnosed as Liddle's syndrome. The mutation of the ENaC of this family was beta R564X. Since such case seem to be rare in the literature, detailed data are shown in this report.
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Kyuma et al. (2001) conducted a case report in Liddle's syndrome (salt-sensitive hypertension and hypopotassemia). DNA sequencing of C-termini of beta and gamma subunits of ENaC was evaluated on Identification of ENaC C-terminus mutation. DNA sequencing of the epithelial sodium channel C-termini in a Japanese family with Liddle's syndrome identified the beta subunit R564X mutation.
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