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 |
|---|---|
| Pages (from-to) | 512-515 |
| Number of pages | 4 |
| Journal | Pediatric Nephrology |
| Volume | 20 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2005 |
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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 journal › Article
}
TY - JOUR
T1 - A novel epithelial sodium channel β-subunit mutation associated with hypertensive Liddle syndrome
AU - Freundlich, Michael
AU - Ludwig, Michael
PY - 2005/4/1
Y1 - 2005/4/1
N2 - 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.
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.
KW - Aldosterone
KW - Blood pressure
KW - Hypertension
KW - Hypokalemia
KW - Renin
UR - http://www.scopus.com/inward/record.url?scp=15344340558&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=15344340558&partnerID=8YFLogxK
U2 - 10.1007/s00467-004-1751-2
DO - 10.1007/s00467-004-1751-2
M3 - Article
C2 - 15690192
AN - SCOPUS:15344340558
VL - 20
SP - 512
EP - 515
JO - Pediatric Nephrology
JF - Pediatric Nephrology
SN - 0931-041X
IS - 4
ER -