A family with liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel.
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.
Kyuma
M
M
The Second Department of Internal Medicine, Sapporo Medical University School of Medicine, Japan.
Ura
N
N
Torii
T
T
Takeuchi
H
H
Takizawa
H
H
Kitamura
K
K
Tomita
K
K
Sasaki
S
S
Shimamoto
K
K
D000450:Aldosterone / Q000097:blood / Q000235:genetics; D000471:Alkalosis / Q000097:blood / Q000235:genetics; D001483:Base Sequence; D001784:Blood Gas Analysis; D002121:Calcium Channel Blockers / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004232:Diuretics / Q000627:therapeutic use; D004848:Epithelium / Q000737:chemistry*; D005192:Family Health; D005260:Female; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D007008:Hypokalemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016296:Mutagenesis / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011188:Potassium / Q000097:blood / Q000652:urine; D012083:Renin / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000097:blood* / Q000235:genetics*; D013148:Spironolactone / Q000627:therapeutic use; D013577:Syndrome; D014223:Triamterene / Q000627:therapeutic use
D002121:Calcium Channel Blockers; D004232:Diuretics; D015222:Sodium Channels; D013148:Spironolactone; D000450:Aldosterone; D012083:Renin; D011188:Potassium; D014223:Triamterene