Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent
Objective: Liddle syndrome (LS) is a rare autosomal dominant condition secondary to a gain-of-function mutation affecting the epithelial sodium channels (ENaCs) in the distal nephron. It presents with early-onset hypertension, hypokalemia, and metabolic alkalosis in the face of hyporeninemia and hyp...
Main Authors: | Raven K. Brower, BS, Ida A. Ghlichloo, BS, Venus Shabgahi, BS, Daniel Elsholz, MD, Ram K. Menon, MD, Arpita K. Vyas, MD |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2021-01-01
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Series: | AACE Clinical Case Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S237606052031018X |
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