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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Apr 2005

Freundlich Michael, Ludwig Michael

Abstract excerpt

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...

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Identifiers

PMID: 15690192
DOI: 10.1007/s00467-004-1751-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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