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- W2794263321 endingPage "812" @default.
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- W2794263321 abstract "Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na+ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution." @default.
- W2794263321 created "2018-03-29" @default.
- W2794263321 creator A5023647519 @default.
- W2794263321 creator A5025351795 @default.
- W2794263321 creator A5027407695 @default.
- W2794263321 creator A5032128128 @default.
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- W2794263321 creator A5058757369 @default.
- W2794263321 creator A5087110432 @default.
- W2794263321 creator A5091030548 @default.
- W2794263321 date "2018-03-11" @default.
- W2794263321 modified "2023-10-18" @default.
- W2794263321 title "Liddle Syndrome: Review of the Literature and Description of a New Case" @default.
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