title: A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome.
abstract: Low-renin hypertension responsive to amiloride-thiazide therapy in a 4-year-old Afro-Haitian girl suggested Liddle syndrome. Urine steroid profiling substantiated the diagnosis and DNA analysis of the epithelial sodium channel (ENaC) revealed a novel heterozygous beta ENaC mutation in the patient and in her hypertensive father. Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity.
authors.affiliation: Department of Pediatrics, University of Miami, Miami, Florida, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Freundlich
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
mesh_terms: D000584:Amiloride / Q000627:therapeutic use; D019943:Amino Acid Substitution; D001483:Base Sequence; D002675:Child, Preschool; D004232:Diuretics / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D053503:Epithelial Sodium Channels; D005260:Female; D006579:Heterozygote; D006639:Histidine; D006801:Humans; D006852:Hydrochlorothiazide / Q000627:therapeutic use; D006973:Hypertension / Q000097:blood / Q000178:diet therapy / Q000188:drug therapy / Q000209:etiology; D009154:Mutation; D011392:Proline; D020033:Protein Isoforms / Q000235:genetics; D011546:Pseudohypoaldosteronism / Q000150:complications / Q000235:genetics*; D012083:Renin / Q000097:blood; D015222:Sodium Channels / Q000235:genetics*; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use
chemical_list: D004232:Diuretics; D053503:Epithelial Sodium Channels; D020033:Protein Isoforms; C507048:SCNN1B protein, human; D015222:Sodium Channels; D049993:Sodium Chloride Symporter Inhibitors; D006852:Hydrochlorothiazide; D006639:Histidine; D000584:Amiloride; D011392:Proline; D012083:Renin