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 | |
| 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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Cite this
Freundlich, M., & Ludwig, M. (2005). A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome. Pediatric Nephrology, 20(4), 512-515. https://doi.org/10.1007/s00467-004-1751-2