Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent

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...

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Bibliographic Details
Main Authors: Raven K. Brower, BS, Ida A. Ghlichloo, BS, Venus Shabgahi, BS, Daniel Elsholz, MD, Ram K. Menon, MD, Arpita K. Vyas, MD
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:AACE Clinical Case Reports
Subjects:
Liddle syndrome
hypokalemia
SCNN1B
hypertension
Online Access:http://www.sciencedirect.com/science/article/pii/S237606052031018X

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http://www.sciencedirect.com/science/article/pii/S237606052031018X

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