Neonatal presentation of a patient with Liddle syndrome, South Africa

Neonatal presentation of a patient with Liddle syndrome, South Africa

Introduction: Liddle syndrome is an autosomal dominantly inherited disorder usually arising from single mutations of the genes that encode for the alpha, beta and gamma epithelial sodium channel (ENaC) subunits. This leads to refractory hypertension, hypokalaemia, metabolic alkalosis, hyporeninaemia...

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Bibliographic Details
Main Authors: Nicolene Steyn, Bettina Chale-Matsau, Aron B. Abera, Gertruida van Biljon, Tahir S. Pillay
Format: Article
Language:English
Published: AOSIS 2023-04-01
Series:African Journal of Laboratory Medicine
Subjects:
liddle syndrome
epithelial sodium channels
genetic sequencing
hypertension
hyporeninaemia
hypoaldosteronism.
Online Access:https://ajlmonline.org/index.php/ajlm/article/view/1998

Internet

https://ajlmonline.org/index.php/ajlm/article/view/1998

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