Pediatric Nephrology

, Volume 20, Issue 4, pp 512–515

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

Brief Report


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.


Blood pressure Hypertension Hypokalemia Aldosterone Renin 

Copyright information

© IPNA 2005

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of MiamiMiamiUSA
  2. 2.Department of Clinical BiochemistryUniversity of BonnBonnGermany
  3. 3.Pediatric Specialty CenterHollywoodUSA

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