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

Michael Freundlich; Michael Ludwig

doi:10.1007/s00467-004-1751-2

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

Michael Freundlich, Michael Ludwig

Pediatrics

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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 βENaC 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.

Original language	English (US)
Pages (from-to)	512-515
Number of pages	4
Journal	Pediatric Nephrology
Volume	20
Issue number	4
DOIs	https://doi.org/10.1007/s00467-004-1751-2
State	Published - Apr 1 2005

Keywords

Aldosterone
Blood pressure
Hypertension
Hypokalemia
Renin

ASJC Scopus subject areas

Nephrology
Pediatrics, Perinatology, and Child Health

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10.1007/s00467-004-1751-2

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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 βENaC 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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AB - 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 βENaC 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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KW - Hypokalemia

KW - Renin

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

Abstract

Keywords

ASJC Scopus subject areas

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