A FAMILY WITH LIDDLE'S SYNDROME CAUSED BY A MUTATION IN THE β SUBUNIT OF THE EPITHELIAL SODIUM CHANNEL

Abstract

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 β or γ subunit. We sequenced the C-termini of the β and γ 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 β R564X. Since such case seem to be rare in the literature, detailed data are shown in this report.