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: Michael Freundlich, Michael Ludwig
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 20 Issue 4 Pg. 512-5 (Apr 2005) ISSN: 0931-041X [Print] Germany
• PMID: 15690192 (Publication Type: Case Reports, Journal Article)

Chemical References

• Diuretics
• Epithelial Sodium Channels
• Protein Isoforms
• SCNN1B protein, human
• Sodium Channels
• Sodium Chloride Symporter Inhibitors
• Hydrochlorothiazide
• Histidine
• Amiloride
• Proline
• Renin

Topics

• Amiloride (therapeutic use)
• Amino Acid Substitution
• Base Sequence
• Child, Preschool
• Diuretics (therapeutic use)
• Drug Therapy, Combination
• Epithelial Sodium Channels
• Female
• Heterozygote
• Histidine
• Humans
• Hydrochlorothiazide (therapeutic use)
• Hypertension (blood, diet therapy, drug therapy, etiology)
• Mutation
• Proline
• Protein Isoforms (genetics)
• Pseudohypoaldosteronism (complications, genetics)
• Renin (blood)
• Sodium Channels (genetics)
• Sodium Chloride Symporter Inhibitors (therapeutic use)