Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/ infantile salt-losing crises that mimic congenital adrenal hype...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Bioscientifica
2021-07-01
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Series: | Endocrinology, Diabetes & Metabolism Case Reports |
Online Access: | https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0010.xml |