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

Michael Freundlich, Michael Ludwig

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 languageEnglish
Pages (from-to)512-515
Number of pages4
JournalPediatric Nephrology
Volume20
Issue number4
DOIs
StatePublished - Apr 1 2005

Fingerprint

Liddle Syndrome
Epithelial Sodium Channels
Renin
Hypertension
Thiazides
Mutation
Amiloride
Fathers
Steroids
Urine
DNA
Therapeutics

Keywords

  • Aldosterone
  • Blood pressure
  • Hypertension
  • Hypokalemia
  • Renin

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome. / Freundlich, Michael; Ludwig, Michael.

In: Pediatric Nephrology, Vol. 20, No. 4, 01.04.2005, p. 512-515.

Research output: Contribution to journalArticle

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