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Case Reports
. 2005 Apr;20(4):512-5.
doi: 10.1007/s00467-004-1751-2. Epub 2005 Feb 3.

A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome

Michael Freundlich  1 , Michael Ludwig
Affiliations
Case Reports

A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome

Michael Freundlich et al. Pediatr Nephrol. 2005 Apr.

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.

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